Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 Syllabus Email: [email protected] Phone: 888.815.0006

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 Syllabus Email: ISDHNBS@Isdh.IN.Gov Phone: 888.815.0006

Please review the provided “Newborn Screening Toolkit” prior to meeting with representatives from Indiana State Department of Health (ISDH) as this serves as a reference guide for those involved with Indiana’s State Mandated Genomics Newborn Screening Programs (GNBS) and its best practices, procedures, and follow-up.

OBJECTIVES

At the end of this day you will have explored all three (3) state mandated portions of GNBS, the IBDPR reporting processes, our best practices, procedures, and follow-up services. You will have already had the opportunity to review the toolkit in depth in order to ask questions directly with an ISDH GNBS representative that can answer them for you or direct the question accordingly and follow-up with you timely. You will leave this meeting with the tools to assist you in increasing staff’s knowledge, ability to educate on GNBS, supply resources when needed, and the ability to ensure smooth transition when GNBS stakeholders change.

Our overall goal across our states ninety (90) birthing facilities is to maintain a centralized GNBS program to ensure that we can assist and amplify those at the forefront of GNBS. You need to be equipped with the most up to date knowledge to ensure IN babies and their families are receiving adequate care, education and resources in regards to GNBS.

INSTEP

Indiana Newborn Screening Tracking and Education Program (INSTEP) is the portal in which the labs information reports GNBS results to and is then accessed by ISDH, ISDH condition specific grantees and their community based organizations for follow-up services, monthly summary reporters (MSRs), and primary care physicians. Access to this program provides the ability to obtain and review GNBS results for medical purposes and data entry at the state level.

Every birthing facility is required to submit MSRs for each portion of GNBS and it is best to have at minimum two people per each screen, one is to be designated as a primary contact while the other a backup, to have access and the ability to report to reduce delays in scenarios of turnover, vacation, ect..

Assistance with INSTEP training can be provided by ISDH upon request as a refresher for current reporters as well as a training course for new users. Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 Syllabus IBDPR

Indiana Birth Defects and Problems Registry (IBDPR) is a population-based surveillance system that seeks to promote fetal, infant, and child health. IBDPR is used to determine frequencies, prevent birth defects and childhood developmental disabilities, and establish an efficient referral system for families impacted by birth defects. IBDPR is housed in the INSTEP portal and receives information from hospital discharge data and newborn screening data.

MOVING FORWARD

Be a part in maintaining a centralized GNBS program by providing education to your staff, ensuring contact information and resources are accurate and up to date at your facility, and provide support to those that are involved with GNBS at your facility.

Utilizing the provided “Maintaining a Centralized Program” (MCP) form will help everyone involved with a quick reference when questions, concerns, or changes occur. This form can be updated as needed and emailed or faxed to the ISDH GNBS program.

The ISDH GNBS team is always available to help answer any questions you may have and to assist you and your facility in fulfilling best practices. GENOMICS & NEWBORN SCREENING

TOOLKIT

VERSION 2

Genomics and Newborn Screening is inclusive of the Early Hearing Detection and Intervention program

and Indiana Birth Defects and Problems Registry.

2018

This binder serves as a reference guide for those involved with Indiana’s State Mandated Genomics and Newborn Screening and its best practices, procedures, and follow-up. Introduction and references to the Indiana Birth Defects and Problems Registry are also included within its content.

Narrative of Contents Appendices

Pg. 1 Acronyms Genomics and Newborn Screening 1 Newborn Screening Law Indiana Administrative Code-Article 3 Pg. 2 Genomics and Newborn Screening Program GNBS 49 Conditions List (en español)

Indiana Birth Defects and Problems Registry Indiana’s Newborn Screening Law (16-41-17)* IBDPR Law Pg. 3 What is it? 2 Indiana Administrative Code Article 21 How much does it cost? Birth Defects Descriptions IBDPR Reportable Conditions List (en español) Physician Birth Defect Reporting System Form

State Forms Indiana’s Birth Defects and Problems Registry Law (IC 16-38-4) Indiana Religious Refusal Waiver Pg. 5 What is it? 3 Storage Request of Dried Blood Spot Reports and Chart Audits Destruction Request of Dried Blood Spot Request for Newborn Screening Results Health information Access Request

Best Practices (410 IAC 3-3-6 Sec. 6)* State Forms (en español) Pg. 8 NBS Log 3 Screens 4 Dialogue

Pg. 12 Newborn Screening Lab Information GNBS Technique References and Protocols NBS Lab Process Hearing, Pulse Ox and Heelstick Reference NOW Courier Information Sheets 5 Pg. 14 GNBS Results and Follow-up Presumptive/Abnormal Heelstick Results Requesting GNBS Results Invalid Heelstick Results INSTEP Special Cases for Pulse Oximetry and Heelstick

Monthly Summary Reports Early Hearing Detection and Intervention Policy Pg. 16 MSR 101 Manual Exceptions 6 Tips for Avoiding Error

Newborn Screening* Pg. 23 Religious Waiver for NBS (IC-41-17-2) Current ISDH GNBS Grantees(TBD) Hearing Screen 7 Pulse Oximetry Screen Heelstick Screen

Pg. 28 Birthing Facility Report Cards 8 Maintaining a Centralized Program Form Quality Improvement Initiative 2017 Quality Indicators Summary and Report Card Example 9 GNBS Contacts

ACRONYMS CCHD – Critical Congenital Heart Disease CHIP – Child Health Information Profile DBS – Dried Blood Spot EHDI – Early Hearing Detection and Intervention FAQ – Frequently Asked Questions GBYS – Guide by Your Side GNBS- Genomics and Newborn Screening IBDPR – Indiana Birth Defects and Problems Registry IN – Indiana INSTEP – Indiana Newborn Screening Tracking and Education Program ISDH – Indiana State Department of Health MCH – Maternal and Child Health MCP – Maintaining a Centralized Program MSR – Monthly Summary Report PID – Patient Identification PCP – Primary Care Provider QI – Quality Indicator RR – Religious Refusal RUSP- Recommended Universal Screening Panel SACHDNC- Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children UNHS – Universal Newborn Hearing Screen

1 Genomics and Newborn Screening Program

Genomic medicine in neonatology, through newborn screening, allows for the rapid identification of various genetic structural deviations which result in disease that would otherwise go undetected until symptom onset. In today’s advancing medical science, detection of disease through genome sequencing is becoming more prevalent. Allowing, not only, for the identification of disease but also providing more effective treatments and in some cases, a cure.

What is Genomics? Genomics is the medical practice of using an organism’s DNA to understand its physiological processes. This practice applies to all living organisms allowing for a comprehensive knowledge of how organisms interact and impact each other. In medical science, genomic medicine is considered a subset of precision medicine using a person’s genetic coding to identify diseases impacting healthy human physiology. Genomics is applicable to every medical field, however, there are a few well-known and widely utilized genomic practices in today’s medical fields including oncology, pathology, infectious disease, and pediatrics. Identifying disease using genomic practices can be done a number of ways including whole genome sequencing, whole exome sequencing, or targeted gene sequencing. Whole genome sequencing is a scan of the full set of DNA’s base pairs (adenine, thymine, cytosine, and guanine or ATCG) for structural deviations where whole exome sequencing is a scan of only protein- coding RNA. Exome sequencing is a less broad view than genome sequencing, allowing for faster identification of diseases with known biomarkers. However, a targeted gene sequencing approach is most efficient and affordable for diseases with well-established locations for genetic mutations or deletions.

What is the difference between Genomics and Genetics? Genomics focuses on physiological processes dictated by genetic coding. Genomics is a broader view of how genes interact and then how to use that interaction to identify and treat disease. Genetics is more narrowly focused on the coding process and DNA/RNA structure building. The differences are slight, but in short, genomics is a field of study and medical practice that uses genetics to understand physiology, health, and disease.

2 Indiana’s Newborn Screening Law (16-41-17)*

Copy found in Appendix 1

What is it? Newborn Screening is a set of three (3) tests that aims to detect health conditions in babies that would otherwise go undetected until the baby becomes symptomatic. This is important, as a newborn may look healthy, but can have a serious health condition, because if left undetected and untreated, these conditions result in severe developmental delays and fatalities. When caught early, the treatments for these conditions can lead to a stronger, healthier development and a longer life.

Indiana’s Newborn Screening law requires every baby to be tested for 49 different conditions including endocrine disorders, cystic fibrosis, inborn errors of metabolism, hemoglobinopathies, congenital heart defects and hearing loss*. In order to rapidly detect these conditions for early intervention, the following three (3) tests must be completed before the baby leaves the hospital:

1. Universal Newborn Hearing Screen (UNHS) detects hearing loss. This can be completed as soon as 6 hours after birth. 2. Pulse Oximetry measures pulse rate and oxygen levels to determine heart and lung function. This can be completed between twenty-four (24) and forty-eight (48) hours after birth. 3. Heelstick, a blood test, is used to screen for genetic conditions that would otherwise go undetected. This must be performed before the baby is discharged from care, twenty- four (24) hours after birth.

How much does it cost? The cost of an initial newborn screen is $100, as of 2018. These funds go to ensuring that there are community resources and medical care available for the children who test positive for these conditions. Some of the expenses that result from these conditions include special medical foods, prescription medications, laboratory testing, frequent physician visits and specialized therapies, and surgeries. So even when a baby’s tests come back as negative, the fee goes to help a family whose baby tested positive and now needs expensive medical treatments.

*Due to new rule promulgations this legislative session, there will be changes to certain rules and codes beginning July 1st, 2018. The new rule promulgations will be sent to each facility once in effect.

NEWBORN SCREENING STAKEHOLDERS Newborn Screening is a public health initiative aimed at identifying conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Those who have a hand in ensuring that all babies born in IN receive a valid and timely screen and any follow-up necessary are very important to us here at ISDH. As of September 2017, Indiana has 90 birthing hospitals, and many birthing centers and midwiferies throughout the state. GNBS follow-up continues into the pediatricians’ offices, health departments, specialty groups, and more. It is important to recognize the work and maintenance that goes into ensuring all of IN newborns are well taken care of in regards to GNBS. Efforts are spread throughout the community and each of us has a crucial role to play in the early detection and intervention of these life threatening and life-altering diseases. Our screeners, testers, reporters and follow-up teams include the following:

● Birthing Facility Managers ● Registered Nurses ● Unit Secretaries ● Laboratory Technicians ● Medical Records Staff ● Audiologists ● Nurse Practitioners ● Hospital Physicians ● Pediatricians ● Medical Assistants ● Specialists ● ISDH Grantees ● ISDH Vendors ● ISDH Staff

Indiana Birth Defects and Problems Registry Law (16-38-4)

Copy found in Appendix 2

What is it? The Indiana Birth Defects and Problems Registry (IBDPR) is a population based surveillance system that seeks to promote fetal, infant, and child health. The purpose behind the IBDPR is to prevent childhood development disabilities, enhance the quality of life of affected children and their families, and reduce infant mortality. After conditions are diagnosed at birth, follow-up with referral to services and appropriate care can be provided to the children. The Indiana Birth Defects and Problems Registry law allowed the Indiana State Department of Health to create the birth defects registry and gather relevant information for epidemiological and environmental studies as well as informing and providing resources to affected families. How does the IBDPR receive reports? The list of reportable conditions is mandated, and reports of confirmed cases are to be made to the IBDPR within sixty (60) days of diagnosis. Additionally, the IBDPR program has targeted conditions, which require a medical chart abstraction if reported through hospital discharge information. Targeted conditions can change based on the initiatives of the MCH programs and emerging public health threats. The IBDPR program receives reports through hospital discharge information, physician reporting, and newborn screening.

1. Hospital reports are received through specified file format in which IBDPR staff uploads into the IBDPR database. The IBDPR program hopes to implement data standards to reduce the burden on the reporting hospital staff. 2. Physicians are required to report to the IBDPR directly through the Physician Reporting Portal. This includes pediatricians, psychiatrists, psychologists, dentists, midwives, registered or licensed practical nurses, optometrists, podiatrists, chiropractors, physical therapists, local health departments, health maintenance organizations, and audiologists. 3. Newborn screening reports, such as failed pulse oximetry screens are reported to the IBDPR for follow-up purposes.

Information on how to register for the physician reporting portal, reportable condition list, and condition descriptions can be found in Appendix 2.

Why is the IBDPR important? Birth defects are COMMON, COSTLY, AND CRITICAL. ● 1 in every 33 babies are born with a birth defect ● Birth defects cost over $2.6 billion in hospital costs each year ● 623 Hoosier infants died before their first birthday in 2016, and 22% of those deaths were due to congenital malformations Current Public Health Initiatives Associated with Birth Defects

● Congenital Zika virus infection leading to microcephaly, brain abnormalities, neural tube defects and other early brain malformations, certain eye abnormalities, and consequences of central nervous system dysfunction such as arthrogryposis, clubfoot, congenital hip dislocation, congenital hearing loss. ● Critical Congenital Heart Disease (CCHD) includes 12 heart conditions; 7 of which the pulse oximetry screening may be able to detect. ● Neonatal Abstinence Syndrome (NAS) in relation to the opioid epidemic Indiana is currently facing.

IBDPR Chart Audit Process and Contacts Medical chart reviews are required for select targeted conditions. Medical chart reviews take place either at the hospital or remotely. With advancements in technology, many hospitals and health networks have allowed Chart Auditors remote access to their EMR.

For more information on medical chart reviews or remote access to your facility’s EMR please contact the IBDPR Program at [email protected]

IBDPR STAKEHOLDERS Birth defect surveillance is the first step in preventing birth defects by identifying and collecting information. The information collected through birth defects surveillance systems is used to understand the following:

● Prevalence rates ● Causes and risk factors for birth defects ● Education to the community ● Implement prevention strategies ● Referrals to service

Birthing facilities are the first contact for a baby born with a birth defect. As of September 2017, IN has 90 birthing hospitals, and many birthing centers and midwiferies throughout the state. GNBS Follow-Up continues into the pediatrician’s offices, health departments, specialty groups, and more. It is important to recognize the work and maintenance that goes into ensuring all of IN newborns are well taken care of in regards to GNBS. Efforts are spread throughout the community and each of us has a crucial role to play in the early detection and intervention of birth defects. Key stakeholders in the birth defect surveillance include the following:

BEST PRACTICE (410 IAC 3-3-6 Sec. 6.) NBS Log

Each hospital or birthing center, and midwife or physician should maintain a log that documents the following information for all infants born, transferred in, or screened at the facility:

● Name of newborn or infant ● Attending physician or midwife (Follow-Up PCP is recommended) ● Medical record number ● Form number of sample sent ● Date sample collected ● Date sample sent ● Date results received ● What the results were (hearing screen, pulse oximetry, heelstick) ● Name of person notified of positive results and date and time of notification

The NBS Log should be reviewed daily to ensure that they are in compliance and that results are recorded within fourteen days – if results are not received within fourteen days, the laboratory must be contacted by telephone. If a baby has been discharged prior to receiving mandated tests, the responsible health care provider and MCH/GNBS must be contacted immediately by telephone and written notification to inform them that a specimen must be taken within three days. MCH/GNBS must be contacted within three days if the responsible health care provider cannot be contacted. MCH/GNBS will then contact the local health officer who will ensure that the specimen is taken. If the health care provider is notified by the laboratory that a specimen is inadequate, they must obtain a repeat specimen within forty-eight hours.

If they are not able to repeat the specimen within forty-eight hours, the GNBS team must be contacted immediately by telephone 888.815.0006 so they can try to follow up on all babies that have been reported as not having received a completed screening. This includes those discharged without NBS. Reporting these cases by phone does not take place of reporting within the MSRs.

Hearing Screening A maximum of two inpatient hearing screens can be performed as early as 6 hours after birth and preferably before discharge. The Early Hearing Detection and Intervention (EHDI) program aims to screen by 1 month, have confirmatory evaluation by 3 months to identify hearing loss, and act on early intervention by 6 months.

When the hearing screen is not done prior to the DBS being sent to the lab, the pink carbon copy titled “Hearing Screen” should be submitted to the lab with the next set of NBS Cards to be picked up by the courier.

For further information and best practices, please refer to the EHDI Policy Manual in Appendix 6

Pulse Oximetry Screening The pulse oximetry test needs to be complete within the first 24 and 48 hours of life to avoid false positives and take advantage of early interventions prior to the ductus arteriosus closing. During the test, the baby should be awake, calm, and warm with one probe placed on the baby’s right hand and the other probe placed on one of the baby’s feet. The results along with the date and time are to be documented on the NBS card and your facility’s NBS log. In the case of a religious exemption for the heelstick, the pulse oximetry results date and time need to be documented on the religious waiver in order for ISDH to know a valid test has been administered and documented.

When the pulse oximetry is not completed prior to the DBS being sent to the lab, the pink carbon copy titled “Hearing Screen” should be submitted to the lab with the next set of NBS Cards to be picked up by the courier with the results legibly written in. If there was an echocardiogram in place of the pulse oximetry, ensure to document the results in your facilities NBS Log for follow- up purposes. A protocol flow chart (insert) is available for pulse oximetry tests as reference to best practices.

Heelstick Screening The heelstick screening is state mandated to take place twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth. In the event of discharge or transfer before twenty-four (24) hours, it is recommended that a heelstick occur prior to those events. This protocol is also relevant for NICU and other special scenarios. Current rule recommends a six (6), fourteen (14) and thirty (30) day collection timeline and monthly thereafter until discharge or 3 months of age, whichever comes first. For special cases it is best practice to still achieve the heelstick by twenty-four (24) hours old rather than delay detection, intervention, and follow-up care.

An appropriate heelstick procedure should start with warming the proper site with a soft moistened cloth and cleansed with alcohol towelette. A valid specimen requires all circles filled with blood soaked through to the other side of the filter paper while avoiding excessive layers. Take caution not to touch or smear the specimen and allow it to dry for four (4) hours prior to submission to the courier service.

Once the DBS is processed at the NBS Lab, all GNBS results will then be faxed from the NBS Lab to the submitting facility to ensure that NBS logs can be updated and resolved, rescreens can be scheduled per the birthing facility, and follow-up with the listed PCP can be initiated.

All information is to be completed legibly on the NBS card then mailed to the NBS Lab and documented in your facility’s NBS Log according to IN Administrative Code.

10 BEST PRACTICE: DIALOGUE Best practice includes educating parents about GNBS conducting the screens and communication with ISDH. Parents must be informed of the DBS consent (opt in/out) portion! This section is intended to be suggested dialogue pieces to communicate with the family PRIOR to GNBS. This will explain the process and procedures involved with GNBS, dried blood spot collection and storage, epidemiological research options, and aftercare.

Suggested Statement from Staff to Family:

Newborn screening is required by the state of Indiana and aims to protect the health of your baby. As of July 2018, Indiana screens for 49 different health conditions in your baby. The state screens for these different health conditions through three newborn screening tests. These tests include heelstick, which is a blood test that detects 47 different genetic (heritable) diseases, pulse oximetry which measures oxygen levels and heart rate to evaluate heart and lung function, and a hearing screen to detect hearing loss.

Newborn screening is important to protecting the health of your baby. If these conditions are left untreated, they may result in adverse health outcomes impacting the mental and physical growth and development of your baby. This can reduce the quality of life for your baby and lead to lifestyle restrictions. This can also lead to an increase in the use and cost of medical care for your baby.

The fees collected to conduct newborn screening are used to support families by ensuring that there are community resources and medical care available for the children who test positive for these health conditions. These fees might help pay for expenses that result from conditions including: special medical foods; prescription medications; laboratory testing; frequent physician visits; specialized therapies; and surgeries.

If newborn screening conflicts with your family’s religious beliefs, you have the right to decline any or all three (3) of the newborn screens including heelstick, pulse oximetry, and hearing. The religious waiver form must be used to indicate your decision to decline any of the newborn screens. The religious waiver is then submitted to the Indiana State Department of Health (ISDH) Genomics and Newborn Screening program.

For more information, please refer to the Newborn Screening pamphlets provided by your birthing facility or midwife.

11 GNBS LAB INFORMATION

As of Fiscal Year 2017, the GNBS Program contracts Indiana University Newborn Screening Laboratory as a vendor of ISDH. Beginning in 1991, this NBS Lab was selected as the centralized location for needs regarding the distribution, collection, and processing of the NBS Cards for the entire state. The NBS Lab serves all IN birthing facilities, midwifes, and other NBS Card submitters across the state.

The following is a quick reference to the lab’s process once receiving an NBS Card: NOTE: Submitters of an NBS Card with the heelstick portion completed will get a faxed or mailed report from NBS Lab once the screening process has been completed for normal results. If abnormal results or issues with the specimen arise then the NBS Lab will be in contact with the submitting facility immediately. If you experience any issues in obtaining results from the NBS Lab, please contact the lab immediately to avoid lag in any follow-up or documentation in your facilities GNBS Log.

DUPLICATE CLERICAL INPUT OF NBS CARD DATA IMMEDIATE SHORT TERM GENERATION OF PATIENT FOLLOW-UP FOR (DEMOGRAPHIC, REPORT HEARING SCREEN AND ABNORMAL AND QNS DBS PULSE OX RESULTS)

-CONFIRMATORY TESTING CONSENT CARD SENT OUT FURTHER SCREENING AS DOCUMENTATION AND NEEDED - REFERALL TO ISDH GNBS RETENTION CONDITION SPECIFIC GRANTEES

SEPERATION OF NBS RESCREENS OCCUR IN THE CARD AND DBS FOR SAME PROCESS WITH DBS ANALYSIS QUALITY REVIEW AND RESCREEN LINKING TO SAMPLE PUNCHING INITIAL

If your birth facility (hospital, birthing center, midwife / midwifery) needs more brochures or NBS Cards, please call the lab and request these materials. New GNBS Card submitters (facilities, birthing centers, midwife / midwifery) will need to set up an account with the lab and ISDH GNBS for submitting and reporting.

NBS Lab Phone: 317.491.6678 Fax: 317.491.6679

12 NOW Courier Information:

NOW Courier is the statewide courier service used for all newborn screening specimens that ensures timely delivery to the NBS Lab, located in Indianapolis, from all IN birthing facilities. NOW’s mission is to provide the most efficient, cost effective and value added courier services through quality service, people and proven technology while developing long-term partnerships with customers. NOW serves all IN birthing facilities six days a week to ensure all DBS cards are delivered in a timely manner to the NBS Lab. NOW offers a tracking system in order to track every DBS card that leaves a birthing facility and can be found at any point of the route, this ensures no cards are lost. It is best to become aware of your birthing facilities NOW courier service route and times to ensure your daily pick up is made with no delay.

You can view more information about NOW Courier service at http://nowcourier.com

If your facility does not have high birth volumes that requires a set schedule for courier services, you are able to indicate the need for pick up by emailing: [email protected] This service for low volume facilities is only available Monday-Friday.

The following lists the regional contact numbers in case your facility needs further information of your scheduled route or if an error has occurred, please contact your regional number or Barb Lesko at the NBS Lab.

The Newborn Screening Laboratory is subject to change at the end of every odd fiscal year as this is when the contract is up for renewal.

13 INSTEP

Primary care providers have online access to newborn screening results, available through the Indiana Newborn Screening Tracking & Education Program (INSTEP)! The ISDH GNBS program highly recommends that a minimum of two people per office group have access to INSTEP in order to obtain GNBS results.

MSRs are submitted by hospital staff within INSTEP. ISDH strongly encourages assigning a minimum of two people to each mandatory reporting task. A two person minimum per each screening report task increases support with the additional work load, reduces delay when there is turn over or time off, and encourages collaboration resulting in fewer reporting errors.

To obtain INSTEP registration instructions, please send an e-mail to the GNBS team at their shared email [email protected] and include the following information:

1) Your full name as it appears on any licenses 2) The name of the physician’s office, hospital, or other medical facility with which you are affiliated 3) The primary care physicians within the medical facility that you are working with 4) The main telephone number of that medical facility 5) Your role at that facility (i.e., physician, nurse, medical assistant, audiologist, etc.) 6) The reason you are requesting to have access to INSTEP

Parents or healthcare professionals can also contact the ISDH Genomics and Newborn Screening Program by calling 888.815.0006

14 REQUESTING NBS RESULTS

If you do not have INSTEP access, and you would like to request Newborn Screening Results, please see the previous instructions on how to obtain INSTEP access in order to look for the results on your own and be able to verify information.

Facilities can also fax the lab with your office’s cover page to 317.491.6679 and include the following child information:

✓ Name ✓ Date of Birth ✓ Mom’s Name ✓ Birth Facility

Submitters of an NBS Card with the heelstick portion completed will get a faxed or mailed report from NBS Lab once the screening process has been completed for normal results. If abnormal results or issues with the specimen arise then the NBS Lab will be in contact with the submitting facility immediately.

If you experience any issues in obtaining results from the lab, please contact the lab immediately to avoid lag in any follow-up or documentation in your facilities GNBS Log.

For further questions regarding GNBS Results, please send an e-mail to the GNBS Program team at [email protected] or call the ISDH Genomics and Newborn Screening Program at 888.815.0006

15 Monthly Summary Reports (MSRs)

INSTEP allows birthing facilities and midwiferies to submit their monthly live birth totals, record of babies exempt from newborn screening for religious beliefs and/or other identified scenarios, and the total number of newborn screens completed. When this data is valid, ISDH is able to utilize the data for the following initiatives:

● Ensure Indiana babies are receiving valid screens ● Be alerted when there is missing information, an invalid heelstick, abnormal results, or no record prompting follow-up care ● Reduce lost to follow-up cases ● Complete quality indicator reports for each facility and midwifery ● Ensure that facilities and midwiferies are abiding the state mandated law ● Increase awareness in the community ● Improve the Newborn Screening Program ● Share reliable statistics ● Show the impact our screens have not only on Indiana babies, but public health initiatives

The overall purpose of adequate MSRs is to ensure that all babies born in Indiana are receiving valid screens, rescreens, and getting the follow-up care they need based on those results.

To ensure your facility is submitting accurate and valid data into the MSRs, please encourage collaboration between the hearing, pulse ox, and heelstick reporters and keep your NBS log up to date and available to all reporters.

MSRs are due by 5 pm EST on the 15th of each month.

If you have any questions about completing the MSR (either within INSTEP or on the hardcopy forms), please contact the Newborn Screening Follow-Up Care Coordinator.

16 MSR 101

Prior to submitting your MSR:

Gather information from your facilities Newborn

Screening Log

Compare your numbers with other reporters within your facility. Each facility has a hearing, pulse ox, and heelstick reporter. *

Double check your information!

G formation from your facilities Newborn Screening Log

*Pay close attention to your live birth numbers, as this number should be the same for each reporter monthly. Exceptions and total number of screens can vary for many reasons.

17 Prior to submitting your Exceptions:

Resolve Holdovers

(Promote, Accept/Decline, Edit Transfer Detail)

Avoid Duplicate Exception Entries

Input Accurate Data with Supporting

Documentation

j 18

Explanations of Exception Page

PROMOTE

ACCEPT DECLINE •Only accept when you are sure that the baby is in the care of your •When you are positive that the baby is NOT in the care of your facility. If the baby is not in the care of your facility, please see the facility, you must decline the transfer. Declining will eclectronically DECLINE portion and notify the GNBS Follow-Up Care Coordinator. send it back to the orignal submitter. Leaving it as is will delay follow-up.

SUPPORTIVE DATA

Provide supportive documentation when screens are delayed and or When inputting an exception, information will need to be known in refused in order to improve data and follow-up. order to not only complete the exception entry but allow for EX; If an echocardiogram occurs due to signs and symptoms, select adeqaute follow-up based off of this coniciding information (time of 'Echocardiogram' and INPUT the interpretation from diagnostic testing. birth, time of death, reciving facility, date of transfer, follow-up PCP, • Religouse Refusal forms must coincide with a Religouse Refusal Exception ect..) • Medical documentation must coincide with Prenanatally/Postnatally Diagnosed with CCHD

TIMING OF ENTRIES

Inputting tranfers in, accurately, is crucial in order for the reciving IN Historically, MSR submitters were asked to input high risk birthing facility to accept/decline them prior to submitting thier (discharged without NBS) into the exceptions page as quickly as MSR. This allows quicker follow-up with the correct facility and possible to notify ISDH GNBS. Reverting back to the Best Practices, avoids unresolved holdovers in the following month. please notify via telephone immediatley. Live births that become deceased prior to any initial or valid NBS Notify ISDH GNBS of all high risk cases by phone call. portion also need to be considered priority in order to avoid making contact with the deceased's family. The initial exception scenario should be priority. Additional information can always be documented in the notes/comments section to assist with follow-up. When needing to update to another exception, ensure you are not creating additional CHIPs/PIDs.

If you have questionable data within your Exception Entry page, contact the NBS Follow-Up Care Coordinator prior to submitting for that month.

19 Exception Entry o Ensure that you have the supporting documentation for the exception that you are reporting. Exceptions and their description are listed below:

Transfer Only

•Transferred In- when valid, must accept or decline •Transferred Out- must provide receiving facility for them to accept tranfer in •When a baby is transferred out of your facility and is not screened prior to transferring out, exception should be Transfer Only. In this scenario, NEVER mark baby as Finally Screened! Including when you know baby will be or has been screened. This verification is for the NBS Follow-Up Care Coordinator.

Finally Screened

•Once exception is documented as Finally Screened for an exception, this number doesn’t tend to go towards your total screened number for that month. Although, the screen is documented within the exception report.

NICU

•Used when in your facilities NICU, not when transferred out to another facilities NICU. •Remember that there is a special protocol for screening NICU babies. When admitted in the NICU, the baby should remain as a NICU Exception until released and then you will promote the status within your MSR.

Initial Screen due Next Month

•Used when there is a delay in screening or when the date and time of birth does not allow for a valid screen to take place within the same month. Applies to all babies born within the last 6-48 hours of the month and will prompt you to promote the baby in the next MSR .

Deceased

•Always provide the date and time of death. Sometimes there is a lag in Vital Records, so providing this documentation within the CHIP’s General Notes section prevents reaching out to the family with NBS Follow-Up.

Religious Refusal

•When documenting a RR, you will be prompted to upload the completed and signed form. This form must also be received by ISDH. You can submit via fax or send with your facilities’ NBS Cards to the NBS Lab, which will then forward them to ISDH.

Discharged without NBS*

•We never want this to occur, but when it does, alert the NBS Follow-Up Care Coordinator ASAP, and please document the scenario within the CHIP’s General Notes section.

20 Exception Entry for Pulse Oximetry The previous exceptions are also utilized as options for the pulse oximetry MSR exceptions. Two additional exception options are valid for pulse oximetry MSRs:

Prenatally/Postnatally Diagnosed with CCHD

•When medical documentation supports this exception option, only this can be selected. When the pulse oximetry is seen to be unnecessary for this reason and an echocardiogram occurs, select this option as well as indicate when an echocardiogram occured.

Did Not Pass Pulse Oximetry Screen -- Referred For Additional Follow- Up •In these scenarios, always indicate if and when the echocardiogram occured and a brief description in the notes of the exception to support follow-up needs.

*Discharged HOME without Pulse Oximetry Screen

Summary Data Entry:

The numerical value of exceptions you entered into the Exception Entry portion will automatically populate within the table on the MSR Summary Data table. These exceptions, including Finally Screened, will deduct from your total number of screens once the following information is manually inputted into the tables, prompting your total number of screens to automatically populate.

• number of births in which the baby is born alive within the reporting facility Live • ALL portins of NBS should be reporting the same live birth number! births

• number that received screening are those born at a non-hospital location and Home come into your facility to complete their initial GNBS births

• number that received screening are those who need initial or rescreens due to various reasons including being discharged without GNBS, whether they were Walk born at the reporting facility or nota different facility, possibly discharged ins without GNBS, and come into your facility to complete valid GNBS

Notify the Follow-Up Care Coordinator if you view any discrepancies once you have completed your MSR Summary Data entry.

21 MSR: Tips for Avoiding Error

o Share this responsibility with a designated backup reporter for your specific screen in addition to the other screen reporters

o Verify contact info is up to date on MCP form

o Encourage accurate recording within your facility’s GNBS Log as births and screens occur

o Review your facility’s GNBS Log prior to data submission

o Collaborate with other GNBS reporters and share GNBS Log data

o Compare your data with other reporters data when applicable (i.e.. live births)

o Ask questions when unsure about data entry or unusual cases by calling ISDH or another reporter

o Review PIDs and CHIPs for any conflicting data

o Screenshot errors when noticed and send to ISDH. Alert ISDH as this can be technical error that will need analyzed and corrected in a timely manner

o Double check your GNBS Log and what you entered into your MSR exception page prior to moving forward with the overall summary entry

o Once live birth number is confirmed accurate and inputted into the summary page and you move to the next field, confirm auto populated numbers are accurate with your facility

o Save and Close the MSR which will submit the report. Saving will only allow you to return to the entry at a later time

o Check your email for reminders from INSTEP to submit your MSR or that your MSR may be late

o Provide necessary attachments for religious refusal exceptions

o Provide the hospital name that is accepting the transfer. Notify ISDH if it is not an option within INSTEP and input it within the notes as well.

ISDH will email and or call you with questions regarding your MSR data entry as needed.

22 Newborn Screening Religious Waiver for the Newborn Screening (IC 16-41-17-2) Copy found in Appendix 3

The State of Indiana has mandated newborn screening, which consists of the hearing screen, pulse oximetry, and heelstick.

Per law (IC 16-41-17-2), a family is able to refuse one, two, or all three portions of the newborn screening due to religious beliefs. For a religious exemption, please have the parent/legal guardian clearly fill in, indicate which screen(s) they are refusing to be administered to the infant, and sign the form (along with a witness).

Always report religious refusals by submitting the waiver(s) to ISDH by faxing the forms directly to the GNBS Program or by mailing a copy of the waiver(s) with your facilities NBS Cards. Note that this does not bypass the requirement of submitting religious exemptions as an exception in your MSR. If one screen is refused it does NOT change the value in reporting the other two portions of NBS to ISDH.

Note: There are no guidelines for specified religious affiliation. Regardless of the family’s beliefs the ISDH GNBS program needs a signed copy of the religious refusal waiver. Ensure the family indicates which screen (hearing, pulse ox and heelstick) is being waived for religious purposes. Upon receipt of the signed and indicated waiver, the family can be assured that no further contact regarding GNBS and follow-up will be made. It is important to note that this waiver serves as a protective measure for healthcare providers and health organizations in the event of adverse outcomes.

If your facility needs more waivers, please refer to the “Forms” section of this Toolkit or contact the GNBS Follow-Up Care Coordinator.

23 Hearing Screen EHDI Manual found in Appendix 6 See Technique References in Appendix 5

Each year in the United States, approximately 3 of every 1,000 babies are born with permanent hearing loss; in Indiana, this accounts for 250 babies annually. Additionally, Indiana has a unilateral (one ear) hearing loss rate of nearly 40%. While not all hearing loss can be reversed or prevented, newborn screening provides the opportunity for early detection and intervention for improved growth, development and social-emotional health. By including hearing screening in Indiana’s newborn screen, most of these children can be identified before 3 months of age and enrolled in appropriate intervention services for them to achieve the best outcomes. It is important to find hearing loss early so that early intervention services and language development can begin as soon as possible.

Mandated by Indiana Statute IC 16-41-17-2, the Universal Newborn Hearing Screening (UNHS) can be performed as early as six (6) hours after birth and it is best practice that not more than two inpatient hearing screens are done. Similar to the heelstick and pulse oximetry screens, the UNHS needs to be completed prior to discharge.

The Early Hearing Detection and Intervention (EHDI) program aims to screen by 1 month, have confirmatory evaluation by 3 months to identify hearing loss, and act on early intervention by 6 months. All babies can and should have their hearing screened before they leave the birthing facility. When an infant has not passed two newborn hearing screens prior to discharge, hospitals and birthing facilities are responsible for providing a referral to a diagnostic audiologist, and/or to the primary care physician. It is not recommended to re-screen the infant who did not pass the initial two screenings. The birthing facility is also required to report the hearing screening results to Indiana’s Early Hearing Detection and Intervention (EHDI) program.

Following a failed newborn hearing screen, the diagnostic evaluation should be completed prior to three months of age in order to identify a hearing loss within the recommended time frame to reduce parental anxiety, decrease the need for sedation, reduce the lost-to-follow up rate and ensure appropriate early intervention services in a timely manner.

24 Pulse Oximetry Screen See Technique References in Appendix 5

Indiana was the second state to have pulse oximetry newborn screening added to the state newborn screen beginning January 1, 2012. Since then every baby born in Indiana is required to have a valid pulse oximetry, unless the baby's parents object to newborn screening based on their religious beliefs.

The pulse oximetry is used as part of newborn screening to determine how healthy a baby’s cardiovascular and pulmonary functions are by detecting oxygen levels in the blood. Babies who have low oxygen levels may have CCHD. This critical test is crucial when CCHD is not detected in utero and can be detected before major signs and symptoms occur after birth.

The pulse oximetry screening must take place between the first twenty-four (24) to forty-eight (48) hours after birth. This test can occur a maximum of three times, with a minimum of one hour in-between screens, before further assessment is needed. There are scenarios when this screen is bypassed and an echocardiogram is done in place.

Please document both results and when an echocardiogram has taken place instead of a valid pulse oximetry screening in order to help with follow-up processes. Documentation can be done either on the GNBS Card, within INSTEP on their CHIP in the general notes section, Religious Waiver and or on your MSR submission.

In order to pass the pulse oximetry screen, a baby must have results of 95% or higher and no difference equal to or greater than 3% between the right hand and foot.

A failed pulse oximetry screen consists of results in either the hand or foot lower than 95% and/or a difference greater than 3% between the right hand and foot.

It is important for parents to know that pulse oximetry cannot identify every child with CCHD, but most babies who pass the pulse oximetry screen will not have CCHD. Therefore, it is important for parents to know the signs of CCHD (including cyanosis of the skin/fingernails/lips, fast breathing, & poor feeding or poor weight gain). Encourage a family to contact their baby’s doctor if they notice any of these signs in their baby.

25 Heelstick Screen See Technique References in Appendix 5

It is the mission of the ISDH GNBS program to use the RUSP as guidelines for adopting conditions to the IN GNBS panel. As the SACHDNC recommends new conditions for GNBS, it is the responsibility of states to perform cost benefit analyses identifying the local community’s ability to support and sustain screening and follow-up services. As of 2018, the IN GNBS panel detects 47 different conditions with the heelstick. Without this heelstick screen, these conditions would remain undetected until symptom onset, at which point, severe developmental delays or death will have already occurred. If a child has one or more of these 47 different conditions, it can be confirmed up to as early as one week of life allowing for rapid detection, early intervention and lifesaving treatment.

Once detection has occurred, early intervention and lifesaving treatment need to take place. The birthing/submitting facility should receive the heelstick results via fax from the GNBS lab within seven (7) days of the birth prompting the receiver to complete “Results Received” column of the NBS log. The receiver must review the results and follow the recommendations provided by the NBS Lab immediately.

Heelstick Results Protocol:

Normal valid results should be received by the birthing/submitting facility within seven (7) days of birth. These results received should then be documented in your NBS log to consider the screen resolved. No further action needs to be taken when a heelstick result is normal and valid.

Presumptive positive or abnormal results will also be documented in your GNBS log and this follow-up process includes phone notification from the NBS Lab and contacting the PCP on file. Please refer to ISDH NBS Lab recommended guidelines. See process map Appendix 5.

Invalid results, for the wellbeing of the child, it is imperative to acquire the rescreen and without further delay repeat the collection of specimen within five (5) business days of initial screen. Please review the table below listing quality indicators for invalid results. See process map Appendix 5.

NICU and other special cases such as preterm delivery, please refer to the ISDH GNBS recommended guidelines. This protocol aids in follow-up and can identify abnormalities even when the heelstick is not considered a valid test. See process map Appendix 5.

26 DRIED BLOOD SPOT:

The heelstick screens for these conditions by collecting a DBS. According to IN NBS Law, the remaining DBS can be made available for epidemiological research to identify new conditions, treatments and preventative measures. All research will be conducted on de-identified specimen, per Indiana Code 16-41-17-10.

ISDH requests written consent from parents or guardians of newborns if they would like to make their child’s DBS available for research purposes.

If consent is granted, the DBS of the child will be stored and made available for epidemiological research for a period of three (3) years and then destroyed.

If parents do not consent to making their child’s DBS available for research, their child’s DBS is kept for six (6) months to ensure all GNBS testing has been completed and then is destroyed.

Within the six (6) months, parents or legal guardians can request that their child’s DBS be stored for research purposes by completing and sending in a form to the GNBS Program. This form can be found in Appendix 3 and online at www.isdh.in.gov

Within the three (3) years, parents or legal guardians may request that their baby’s DBS be destroyed by completing and sending a form to the GNBS Program. This form can be found in Appendix 3 and online at www.isdh.in.gov

Cards for any child born before June 1, 2013, have not been made available for research and have been destroyed in a secure manner. Other cards will be destroyed on a schedule in accordance with the three-year retention policy.

More information, including a full list of the conditions currently tested for, can be found at www.NBS.in.gov

If you encounter any questions regarding the status of a child’s DBS, please do not hesitate to contact the Indiana Genomics and Newborn Screening Program.

27 Birthing Facility Report Cards

Quality Improvement Initiative 2018 ISDH GNBS Program has revitalized this program with tools and suggestions provided by the NewSTEPs360 program. NewSTEPs is a program of the Association of Public Health Laboratories with an objective to reduce infant mortality and morbidity through GNBS by assisting states in being timely and accurate. You can view more information on the NewSTEPs program at http://www.newsteps.org/ The mission of this revitalization is to improve timeliness, accuracy, collaboration, education, and reporting between all of IN GNBS stakeholders. With this, the GNBS program aims to aid in reducing infant mortality and morbidity through IN state mandated GNBS (hearing screen, pulse oximetry, and heelstick). The following Quality Indicators will be used by ISDH GNBS in creating your facilities report card and are subject to change. These report cards will be electronically distributed to a designated person and or group within your facility and identified on the MCP Form quarterly and annually.

Q4. January

October-December of the previous calendar year

Q1. April January-March of the current calendar year

Q2. July April-June of the current calendar year

Q3. October

July-September of the current calendar year

If you have any questions, please feel free to email GNBS Quality Coordinator or Special Projects Coordinator at [email protected]

28 Quality Indicators:

Quality Indicator 1: Total number of reported MSRs by facility for the year, including hearing, pulse oximetry and heelstick MSRs, the number received on time, and overall rank among birthing facilities in the State of Indiana.

Purpose: To rank all institutions based on Newborn Screening MSR quality indicators.

Screening Data Denominators:

i. Number of Hearing MSRs received from facility for the Quarter.

i. Number of Pulse Oximetry MSRs from facility for the Quarter.

i. Number of Heelstick MSRs from facility for the Quarter.

ii. Number of MSRs that were received on time to the ISDH.

iii. Overall rank of all birthing facilities based on the institution’s received MSRs.

Definitions:

i. Total number of MSRs received by ISDH through INSTEP database system

ii. Total number of Months that MSRs were received on time through the INSTEP database system.

a) MSRs are due by 5 pm EST on the 15th of the following month.

iii. Overall rank of institution compared to all other institutions that report to the ISDH through

the INSTEP system.

a) Rank of one is the highest rank available

29 Quality Indicators:

Quality Indicator 2: Total number of infants who did not pass their initial hearing screening and are referred due to high risk factors.

Purpose: To track and maintain total number of infants who do not pass the initial hearing screen and were referred due to high risk conditions.

Screening Data Denominators:

i. Number of infants who did not pass the initial screening for the newborn screening for

hearing loss.

ii. Number of infants who were referred due to high risk factors due to newborn screening results.

Definitions:

i. Total number of infants who did not pass the initial hearing screen test.

ii. Total number of children referred due to high risk factors found during the hearing part of

the NBS.

30 Quality Indicators:

Quality Indicator 3: The amount of missing information from the medical record that is needed for chart reviewers to appropriately report to the IBDPR to confirm diagnosis of reportable conditions.

Purpose: To increase the percentage of information that is put into the medical records for infants who have reportable conditions so that chart reviewers can more easily identify and confirm conditions that need reported to the IBDPR.

Definitions: List of all necessary components for a complete and accurate chart patient medical record. See similarities in requirements of NBS Card and Log within the list below. Infant’s Name The full name of the newborn Infant’s DOB The date of birth of the newborn Infant’s Gender The gender of the newborn Infant’s Race The race of the newborn Infant’s Ethnicity The ethnicity of the newborn Infant’s Follow-Up PCP The infant’s Follow-Up PCP name and contact information. Hospitalist should never be the listed PCP unless NICU statues or will see in outpatient setting. Mother’s name The full name of the mother Mother’s maiden name The maiden name of the mother Mother’s Race The race of the mother Mother’s DOB The date of birth of the mother Mother’s address The address of the mother at the time of delivery Mother’s phone number The phone of number of the mother Mother’s email The email address of the mother Time of Birth The time of birth for the newborn Birth order The order in which infants of a multiple gestation pregnancy are delivered Birth facility The location where the birth took place Gestational age Gestational age of the newborn at the time of birth Plurality The number of infants resulting from a single pregnancy Birth Weight The weight of the newborn at delivery in grams Birth length The length of the newborn at delivery in centimeters Head Circumference The head circumference at delivery in centimeters

31 Date of Death The date of death for an infant Transfused Whether the baby was transfused or not Birth Defect(s) The ICD-10 code for the diagnosed birth defect Procedures performed for All procedures performed for diagnostic evaluation. Procedures diagnosis of birth defect(s) required for confirmation of diagnosis differ depending on the condition, but may include echocardiograms, imaging studies, surgeries, specialist consults, and physician consults. Prior Infant Deaths The number of previous infant deaths experienced by mother Prior Stillbirths The number of previous stillbirths Prior Spontaneous Abortions The number of previous spontaneous abortions Prior Induced Terminations of The number of previous induced terminations Pregnancy Prior Preterm Deliveries Whether mom experienced any preterm deliveries previously Prior Multiple Gestations Whether mom experienced any multiple gestations previously Gravidity The number of times a woman has been pregnant Parity The number of pregnancies carried to a viable gestational age Prenatal care start date The date prenatal care visits started Number of prenatal care visits The total number of prenatal care visits completed by mother Mother’s Substance Use History The type and name of substance(s) used prior to and during pregnancy: alcohol, tobacco, prescription and illegal drugs. The trimester substances were used and the tests performed for confirmation.

32 Quality Indicators:

Quality Indicator 4: The amount of time it takes facilities to collect and submit valid and sufficient NBS

Cards to the NBS Lab for processing.

Purpose: To improve the amount of correctly labeled and correctly collected NBS Cards that the NBS Lab receives.

Definitions:

i. Correct and fully filled out NBS Card that the NBS Lab receives to run the test for the infant

ii. The code that is affixed by the NBS Lab to the NBS Card based on the sample given

numbered 1-34

iii. Unsatisfactory rate percentage is the number of specimens sent to the NBA Lab that were

not sufficient to run test divided by the total number of specimens sent to the lab.

Quality Indicators:

Quality Indicator #5: Number of infants who did not have Pulse Oximetry results who had suspected critical congenital heart disease (CCHD) on the NBS Card.

Purpose: To improve the amount of NBS Cards that have Pulse Oximetry results for infants who have suspected CCHD conditions.

Definitions:

i. Number of infants who have suspected CCHD conditions and the NBS Card did not have the

Pulse Ox information on the card.

ii. Number of infants who have suspected CCHD conditions and the NBS Card did have the

Pulse Oximetry information on the cards.

33 Summary Page

QI#1-Total number of reported MSRs:

Report Information: The statistics in this report are based on the data submitted by you for the year of 2018. Reports Submitted: Lists the percentage and rank of the reports that have been received by ISDH GNBS at the time of this report. Received on time: Lists the percentage and rank of submitted reports that were received by 5 pm EST on the 15th of the month following the report month.

Rank: Ranking based on number of reporting institutions. Rank one is the highest rank available. QI#2-Total not Passing Initial Hearing Screen:

The total number of infants who did not pass their initial hearing screen and were not referred

to a specialist.

QI# 3-Missing information from medical record:

The information missing from medical record that is needed for chart reviews to appropriately

report to IBDPR.

QI#4- Time for valid NBS Card for DBS to be received and processed: The amount of time it takes for facilities to collect and submit valid and sufficient NBS Cards to the NBS Lab for processing.

QI#5- Number of children without pulse oximetry:

The number of infants who did not have a pulse oximetry result with suspected CCHD on the NBS Card.

Unsatisfactory Rate Percentage: This is the percentage of unsatisfactory NBS Lab DBS compared to total

DBS submitted.

34 Quality Codes:

1. Oversaturated 2. Oversaturated; spotted on both sides

3. Oversaturated; Double Spotted 4. Minimal Specimen to Assay

5. Minimal Specimen to Assay; Circle 6. Minimal Specimen to Assay; Uneven Underfilled Saturation 7. Minimal Specimen to Assay; 8. Uneven Saturation Multiple Small Dots 9. Uneven Saturation; Overlapped 10. Uneven Saturation; Filter Paper Spots Scratched 11. Inadequate Saturation 12. Circles Underfilled 13. <3 Circles Filled 14. Double Spotted 15. Spotted on Both Sides 16. Multiple Small Dots 17. Filter Paper Scratched by Capillary 18. Clotted Tube 19. Paperwork Incomplete 20. Specimen Received >5 days After Collection 25.* Specimen Unacceptable; Clots on 26.* Specimen unacceptable; Card Contaminated with Tissue Fluid 27.* Specimen Unacceptable; 28.* Specimen Unacceptable; Multiple Contaminated with Liquid Overlapped Spots 29.* Specimen Unacceptable; Grossly 30.* Specimen Damaged Oversaturated 31.* Specimen QNS (Quality Not 32.* No Blood on Card Sufficient) 33.* Specimen Received>10 days After 34.* ID Doubtful Collection

* Denotes a rejected code. Specimen is not resulted if this code is used; Another Specimen is

required.

35 2018 Status Report Example Newborn Screening Report

Quarterly Summary Report

Reporting Facility: FACILITY NAME

FACILITY NAME Overall Ranking is: CURRENT RANK /90

Point of Contacts: Heelstick Contact Hearing Contact Pulse Oximetry Contact NAME NAME NAME The following data listed is based solely on your institutions reports.

Quarter

Heelstick MSR Pulse Ox MSR Hearing MSR Number of reports Overall Rank received on time _/3 _/3 _/3 _/3 _/90

Hearing Screen: Total not Passing Initial Hearing Screen Total Infants Referred due to High Risk Factors

Chart Reviews: Quality Code Quality Code Description Unsatisfactory Rate Percentage

Pulse Oximetry readings for kids with suspected CCHD: Number of NBS with missing Pulse Oximetry information Number of NBS with Pulse Oximetry information

Year to date status: Heelstick Pulse Oximetry Hearing Number of Reports on Overall Rank time _/3 _/3 _/3 _/9 _/90

36 2018 Status Report Example Newborn Screening Report

Annual Summary Report

Reporting Facility: FACILITY NAME

FACILITY NAME Overall Ranking is: CURRENT RANK/90

Point of Contacts: Heelstick Contact Hearing Contact Pulse Oximetry Contact NAME NAME NAME The following data listed is based solely on your institutions reports.

January-December

Heelstick MSR Pulse Ox MSR Hearing MSR Number of reports Overall Rank received on time _/12 _/12 _/12 _/36 _/90

Hearing Screen: Total not Passing Initial Hearing Screen Total Infants Referred due to High Risk Factors

Chart Reviews: Lab Information Quality Code Unsatisfactory Rate Percentage

Pulse Oximetry readings for kids with suspected CCHD: Number of NBS with missing Pulse Oximetry information Number of NBS with Pulse Oximetry information

Summary of Quarterly Performance: Overall Rank for 2018: RANK/90

1st Quarter Rank: 2nd Quarter Rank: 3rd Quarter Rank: 4th Quarter Rank: _/90 _/90 _/90 _/90

This will denote your facilities specific results.

37 GNBS FAQs Please see your Toolkit if your question is not answered within this FAQ. If you have further questions, please email us at [email protected]

 Why fill in results for hearing screen and/or pulse oximetry on the Religious Waiver when I complete INSTEP reporting? Seems like duplication. When the heelstick is not completed, the process for inputting NBS results differs. Best practice is to ensure that we are fully aware of the NBS results in a timely manner when a heelstick doesn’t coincide with other NBS results.

 Notifying ISDH GNBS of Discharge without NBS? Promptly call (888) 815 – 0006 and provide the babies name, DOB, mom’s name, and the birthing facility in addition to details as to why this discharge without NBS occurred. You can also securely email this information to [email protected]

 How do I email NOW if I am a low-volume facility without Sunday courier service and need a specimen picked up over the weekend? Email as you normally would to ensure the sample will be picked up on Monday and delivered on Tuesday. Plan accordingly when you are expecting a screen will need to be sent on Sunday to ensure the courier will pick up first thing Monday. NOW’s courier service contact email is: [email protected]

 NBS prior to transfer? It is best practice to complete NBS, especially the heelstick, prior to transferring out as this helps ensure early detection and prevent lost to follow-up. If this would interfere with timely care during a code situation, it is important to ensure the receiving facility is aware NBS has not been completed so that they can complete NBS within a timely manner. If valid NBS was not completed prior to transfer, ensure it is properly documented within the MSR.

 Adoption and surrogacy and the NBS Card: Each scenario can be different but it is important to ensure privacy and wishes from all involved. In all cases we want to ensure whoever is walking out of the birthing facility with the baby is listed as we will always need a contact to follow-up with in the case of abnormalities or rescreens. Indicate when it is an adoption but without leaving out any determined identifiers (adoptive parent/guardian information, follow-up contact, ect..) When surrogacy, the surrogate’s information should not be included as the parent(s) information should be. Contact ISDH GNBS before discharge if you have any questions (888) 815 – 0006 or (317) 233 – 7019

 Last quality check should occur before baby is discharged and the NBS Card is sent to NBS Lab.  Who should complete the quality check? Best practice is for whomever places the card in the envelope to send to the NBS Lab. Although, this can vary on who collects the sample and where it is picked up.  Questions to be asked to demonstrate a quality check?  Is the DBS of good quality? o Are the spots filled appropriately without overlapping, clotting or layers of blood? o Are the spots evenly saturated? Turn the sample over a look at both sides! No oversaturation. o Are there serum rings present? o Does the DBS appear to have multiple applications, or insufficient filling? o Has the filter paper been roughened during application of blood? o Was the DBS allowed to dry a minimum of 4 hours? o Specimens are kept separate and thoroughly dried before placing in plastic bag and kept away from other drying specimens.  DBS sent by courier within 24 hours of collection?  Are the demographic portions filled out legibly (MRN#, Patient Name, Mother’s name, Follow-Up Physician name and number)?  Has the NBS Log been completed?  Are hearing and pulse oximetry portions filled out? Do not delay sending of Heelstick screening for these results.  Are separated copies of the NBS Card identified with a patient sticker?  How should a completed quality check be documented? The NBS Log would be the best place for this. We have provided an electronic Excel spreadsheet to help your facility keep track of this information.

 Is it recommended by the NBS Lab for all individual sheets of the NBS Card to be labeled with a patient sticker? Yes, placing a patient identifier on each sheet of the NBS Card assists in legibility and tracking of the screens. Remember to not cover over any demographics or the requisition barcode located on the NBS Card.

 Should the NBS Log have all information in one spot? This process will vary depending on your facilities processes. Often the information is split for hearing and pulse oximetry when labs complete the heelstick so we recommend NBS is completed, documented and reported all within the same team or ensure strong communication is occurring between all involved with NBS.

 How long should paper NBS Logs be kept? Follow your facility’s medical records retention policies and procedures or at a minimum of 3 years.

 Difficult heelstick: Is it better to have 3 circles or partials of all 6, knowing punch outs are not the full circle? It is best to collect as many good spots as possible first by filling every circle to ensure no rescreen is needed. Although, the minimum would be 4, completely filled and saturated evenly through to the back, spots. No one wants to stick the baby again, but it is easier when they are there rather than requiring them to come back because the sample was QNS.

 Collecting a heelstick rescreen on an older baby, is it ok to stick from a different site other than the heel? Other sites available for draw are acceptable, but cannot use lab tubes containing EDTA or heparin! Additionally, central lines should not be utilized if infusing amino acids. Venous draws are acceptable, but not preferred. Arterial blood can also be used but care should be taken to clear the lines so we don’t get interference from medicines, etc.

 Should a venous sample be indicated on the card? No, not at this time.

 Rescreens: Do hearing and pulse oximetry results need to be re-documented on the rescreen heelstick NBS Card if included with the initial screening? Yes, fill in all fields as known each time a card is submitted. Information can change and we would like the most accurate and recent information available.

 Religious Waiver be used for refused rescreens? Yes, the state waiver should be fully indicated and signed; therefore, the parents do still need to return to the birthing facility to complete this.

 What is the overall ranking indicated from the MSRs? The MSR contains information from all 3 portions of NBS therefore the overall ranking is the facility’s rank compared to all birthing facilities in the state in regards to timeliness of NBS.

 When are MSRs due? MSRs are due by 5 p.m. EST on the 15th of the month.

Newborn Screening Law

IC 16-41-17 Chapter 17. Prevention and Treatment Programs: Examination of Infants for Phenylketonuria, Hypothyroidism, and Other Disorders 16-41-17-1Waste blood specimen 16-41-17-2Examinations; religious exemption 16-41-17-3Educational program 16-41-17-4Tests 16-41-17-5Detection plans and procedures 16-41-17-6Reports 16-41-17-7Testing laboratories 16-41-17-8Blood samples 16-41-17-9Rules 16-41-17-10Follow-up programs; newborn screening fees; waste blood specimen confidentiality 16-41-17-11Newborn screening fund

IC 16-41-17-1 Waste blood specimen Sec. 1. As used in this chapter, "waste blood specimen" means a blood sample or a solid, liquid, or semiliquid blood product that: (1) has served the intended purpose under section 4 of this chapter; or (2) has served the natural, biological, medical, or intended purpose and has been discarded or accumulated for discard from a use other than as provided under section 10(a)(5) of this chapter. [Pre-1993 Recodification Citation: 16-8-6-1.6.] As added by P.L.2-1993, SEC.24.

IC 16-41-17-2 Examinations; religious exemption Sec. 2. (a) Subject to subsection (d), every infant shall be given examinations at the earliest feasible time for the detection of the following disorders: (1) Phenylketonuria. (2) Hypothyroidism. (3) Hemoglobinopathies, including sickle cell anemia. (4) Galactosemia. (5) Maple Syrup urine disease. (6) Homocystinuria. (7) Inborn errors of metabolism that result in an intellectual disability and that are designated by the state department. (8) Congenital adrenal hyperplasia. (9) Biotinidase deficiency. (10) Disorders detected by tandem mass spectrometry or other technologies with the same or greater detection capabilities as tandem mass spectrometry, if the state department determines that the technology is available for use by a designated laboratory under section 7 of this chapter. (b) Subject to subsection (d), every infant shall be given a physiologic hearing screening examination at the earliest feasible time for the detection of hearing impairments. (c) Beginning January 1, 2012, and subject to subsection (d), every infant shall be given a pulse oximetry screening examination at the earliest feasible time for the detection of low oxygen levels. Section 10(a)(2) of this chapter does not apply to this subsection. (d) If a parent of an infant objects in writing, for reasons pertaining to religious beliefs only, the infant is exempt from the examinations required by this chapter. [Pre-1993 Recodification Citation: 16-8-6-1.] As added by P.L.2-1993, SEC.24. Amended by P.L.91-1999, SEC.2; P.L.149-2001, SEC.3; P.L.229- 2011, SEC.165; P.L.117-2015, SEC.34.

IC 16-41-17-3 Educational program Sec. 3. The state department shall conduct an intensive educational program among physicians, hospitals, public health nurses, and the public concerning the disorders listed in section 2 of this chapter. The educational program must include information about: (1) the nature of the disorders; and (2) examinations for the detection of the disorders in infancy; so that measures may be taken to prevent the intellectual disabilities, medical complications, or mortality resulting from the disorders. [Pre-1993 Recodification Citation: 16-8-6-2.] As added by P.L.2-1993, SEC.24. Amended by P.L.117-2015, SEC.35.

IC 16-41-17-4 Tests Sec. 4. After consultation with medical authorities, the state department shall require appropriate tests to be used in the detection of disorders listed in section 2 of this chapter. [Pre-1993 Recodification Citation: 16-8-6-3.] As added by P.L.2-1993, SEC.24.

IC 16-41-17-5 Detection plans and procedures Sec. 5. The state department and all local boards of health shall encourage and promote the development of plans and procedures for the detection of the disorders listed in section 2 of this chapter in all local health jurisdictions of Indiana. [Pre-1993 Recodification Citation: 16-8-6-4.] As added by P.L.2-1993, SEC.24.

IC 16-41-17-6 Reports Sec. 6. (a) The state department shall provide forms on which the results of tests performed on each child for the disorders listed in section 2 of this chapter shall be reported to the state department by physicians and hospitals. (b) The state department shall ascertain at least quarterly the extent of such testing and the findings shall be reported to all hospitals, physicians, and other groups interested in child welfare.

[Pre-1993 Recodification Citation: 16-8-6-5.] As added by P.L.2-1993, SEC.24. IC 16-41-17-7 Testing laboratories Sec. 7. (a) The state department shall designate at least one (1) laboratory for testing for disorders listed in section 2(a) of this chapter. (b) The designated laboratories shall perform tests on all infants for the detection of disorders under section 2(a) of this chapter. (c) This section does not prevent other facilities from conducting tests for disorders under this chapter.

[Pre-1993 Recodification Citation: 16-8-6-6(a).] As added by P.L.2-1993, SEC.24. Amended by P.L.91-1999, SEC.3.

IC 16-41-17-8 Blood samples Sec. 8. Each hospital and physician shall: (1) take or cause to be taken a blood sample from every infant born under the hospital's and physician's care; and (2) transport or cause to be transported each blood sample described in subdivision (1) to a laboratory designated under section 7 of this chapter; for testing for the disorders listed in section 2(a) of this chapter. [Pre-1993 Recodification Citation: 16-8-6-6(b).] As added by P.L.2-1993, SEC.24. Amended by P.L.91-1999, SEC.4.

IC 16-41-17-9 Rules Sec. 9. The state department shall adopt rules under IC 4-22-2 to carry out this chapter, including rules to ensure the following: (1) Proper and timely sample collection and transportation under section 8 of this chapter. (2) Quality testing procedures at the laboratories designated under section 7 of this chapter. (3) Uniform reporting procedures. (4) Centralized coordination, tracking, and follow-up. (5) Appropriate diagnosis and management of affected newborns and counseling and support programs for newborns' families.

[Pre-1993 Recodification Citation: 16-8-6-7.] As added by P.L.2-1993, SEC.24.

IC 16-41-17-10 Follow-up programs; newborn screening fees; waste blood specimen confidentiality Sec. 10. (a) The state department shall develop the following: (1) A registry for tracking and follow-up of all newborns and individuals for screening. (2) A centralized program that provides follow-up, diagnosis, management, and family counseling and support, including equipment, supplies, formula, and other materials, for all infants and individuals identified as having one (1) of the disorders listed in section 2 of this chapter. (3) A laboratory quality assurance program, including proficiency testing. (4) A statewide network of genetic evaluation and counseling services. (5) A system for using, for epidemiological survey and research purposes, any waste blood specimen generated under this chapter. (b) The program described in subsection (a) shall be funded by collection of a newborn screening fee for each newborn screened by a designated laboratory. (c) The state department shall set the fee and procedures for disbursement under rules adopted under IC 4-22-2. The fee must be based upon the projected cost of the program. The proposed fee must be approved by the budget agency before the rule is adopted. (d) The designated laboratory shall assess, collect, and deposit the fees established under subsection (c) in the newborn screening fund established under section 11 of this chapter. (e) The state department shall annually review the newborn screening fee. (f) Waste blood specimens used for the purpose of implementing the system described under subsection (a)(5) may not include the name or other identifying characteristics that would identify the individual submitting the specimen. [Pre-1993 Recodification Citation: 16-8-6-8 part.] As added by P.L.2-1993, SEC.24.

IC 16-41-17-11 Newborn screening fund Sec. 11. (a) The newborn screening fund is established for the purpose of carrying out this chapter. The state department shall administer the fund. (b) The expenses of the newborn screening program shall be paid from money in the fund. (c) Money in the fund at the end of a state fiscal year does not revert to the state general fund.

[Pre-1993 Recodification Citation: 16-8-6-9.] ARTICLE 3. MATERNAL AND CHILD HEALTH

Rule 1. Vision Acuity Testing NOTE: This rule was promulgated jointly with the state board of education and also appears at 511 IAC 4-2-1.

410 IAC 3-1-1 Testing Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 1. (a) All school corporations shall conduct an annual screening test of the visual acuity of all children enrolled in or transferred to grades 3 and 8 and all other school children suspected of having a visual defect. (b) Equipment for testing visual acuity shall consist of the following: (1) The minimum equipment to be used shall be a Snellen Chart illuminated by two (2) sixty (60) watt bulbs. (2) The Snellen E Chart shall be used for grade 3. (3) The Snellen Alphabetical Chart shall be used for grade 8. (4) The use of testing equipment equivalent to or more elaborate than the Snellen test is at the discretion of the local school system and shall be based on the recommendations of the school's professional health advisory sources. (Indiana State Department of Health; Reg MCH 1,A; filed Mar 21, 1960: Rules and Regs. 1961, p. 217; filed May 11, 1988, 4:30 pm: 11 IR 3539; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR- 410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1-2 Testing procedures; standards Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 2. Procedures for vision testing are as follows: (1) Equipment shall be used as follows: (A) The Snellen Chart (E or Alphabetical) shall be used at a distance of twenty (20) feet. (B) The lamps used to illuminate the chart shall be placed one (1) foot from the chart. (2) The following standards apply: (A) Children in grade 3 who are unable to read with each eye the 20/30 line of the Snellen Chart shall be recommended for further examination based upon the recommendations of the professional advisors of a school's eye screening program. (B) Children in grade 8 who are unable to read with each eye the 20/20 line of the Snellen Chart shall be recommended for further examination. (C) Parents of children with corrective lenses or other ocular devices shall be informed of the eye screening program but these children need not be referred for further examination. (Indiana State Department of Health; Reg MCH 1,B; filed Mar 21, 1960: Rules and Regs. 1961, p. 217; filed May 11, 1988, 4:30 pm: 11 IR 3539; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR- 410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1-3 Qualification of testers Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 3. The school administrator shall assign the best qualified person in the school system or school health service to supervise eye screening tests. (Indiana State Department of Health; Reg MCH 1,C; filed Mar 21, 1960: Rules and Regs. 1961, p. 218; filed May 11, 1988, 4:30 pm: 11 IR 3539; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

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410 IAC 3-1-4 Reports Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 4. Reporting of School Testing Program (1) Each school corporation shall submit an annual report of its vision testing program to the Indiana state board of health. (2) The report shall include the following: (A) the number of children in each grade tested; (B) the number of children in each grade requiring further examination; (C) the number of children receiving further professional attention; (D) the type of screening test used; (E) the person or department supervising the testing program. (3) The school's testing program shall be subject to review and approval by the state board of education and the state board of health. (Indiana State Department of Health; Reg MCH 1,D; filed Mar 21, 1960: Rules and Regs. 1961, p. 218; filed May 11, 1988, 4:30 pm: 11 IR 3539; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR- 410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

Rule 1.1. Visual Acuity Testing; Modified Clinical Technique NOTE: This rule was promulgated jointly with the state board of education and also appears at 511 IAC 4-2-1.1.

410 IAC 3-1.1-1 Annual vision test Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 1. Every school corporation shall conduct an annual visual test, using the modified clinical technique, of children when they enroll in either kindergarten or grade 1 unless an eye care professional requests, in writing, that the child not be tested. The modified clinical technique consists of testing for vision acuity, refractive error, ocular health, and binocular coordination. The school corporation shall use the suggested equipment unless the professional health personnel of the school recommend other equivalent or superior equipment. (Indiana State Department of Health; 410 IAC 3-1.1-1; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR- 410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1.1-2 Visual acuity Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 2. To test for visual acuity, the school corporation shall use the Snellen Alphabetical, Stycar (HOTV) Chart or equivalent test. The chart shall be calibrated at ten (10) to twenty (20) feet for distance vision and fourteen (14) inches for near vision. For testing distance vision, the chart shall be illuminated by two (2) sixty (60) watt bulbs and for near vision, by one (1) sixty (60) watt bulb. The chart shall be located at a distance of ten (10) to twenty (20) feet from the student and calibrated accordingly. Lamps shall be placed one (1) foot from the chart. The school shall recommend for further examination those students who: (1) are unable to read the 20/40 line with either eye; (2) with one (1) eye can read a line that is two (2) or more lines higher or lower on the chart than the line that can be read with the other eye; or (3) are unable to read the 20/30 line at 14 inches using both eyes. (Indiana State Department of Health; 410 IAC 3-1.1-2; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

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410 IAC 3-1.1-3 Refractive error Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 3. To test for refractive error, a retinoscope with loose lenses or a lens bar shall be used. The child shall focus on an object at twenty (20) feet for distance vision of 3/4 meter (29.53 inches) for near vision. A school corporation shall recommend for further examination a student who has: (1) refraction of + 2.00D or greater; (2) refraction of - 1.00D or greater; (3) astigmatism of 1.00D or greater; (4) anisometropia of 1.00D or greater. (Indiana State Department of Health; 410 IAC 3-1.1-3; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1.1-4 External health of eye Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 4. To determine the external health of the eyes, the ocular adnexa, conjunctiva and cornea of the eyes shall be observed in a room with normal illumination and the illumination from a pen light. (Indiana State Department of Health; 410 IAC 3-1.1-4; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1.1-5 Internal health of eye Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 5. To determine the internal health of the eyes, the anterior chamber, iris, posterior chamber, lens, vitreous, optic nerve head, and retina shall be observed with a direct ophthalmoscope with rheostat, variable aperture and variable plus and minus lenses. (Indiana State Department of Health; 410 IAC 3-1.1-5; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1.1-6 Binocularity Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 6. Binocularity shall be tested respectively at twenty (20) feet (distance) and fourteen (14) inches (near). To test the binocularity of the eyes, any of the following equipment may be used: (1) A paddle occuluder [sic.] to alternately cover the eyes while the opposite eye fixates on a target. (2) Plastic or glass prisms loose or in a bar or rotary pedestal to measure manifest or latent deviation. (3) Stereopsis targets with appropriate testing spectacles. Disparity shall be recorded in seconds of arc. (Indiana State Department of Health; 410 IAC 3-1.1-6; filed May 11, 1988, 4:30 pm: 11 IR 3540; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

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410 IAC 3-1.1-7 Further examination Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 7. The school corporation shall recommend for further examination those students who demonstrate: (1) a manifest deviation of any size; (2) a latent deviation of 10 prism diopters of exodeviation; (3) a latent deviation of 8 prism diopters of esodeviation; or (4) a lack of stereo acuity. (Indiana State Department of Health; 410 IAC 3-1.1-7; filed May 11, 1988, 4:30 pm: 11 IR 3541; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 3-1.1-8 Eye health care professional; qualifications Authority: IC 20-34-3-12 Affected: IC 20-34-3-12

Sec. 8. Qualification of testers: (1) The school administrator shall be responsible for assigning the best qualified person(s) in the school system or school health service for conducting, supervising, and assisting in eye screening. (2) The school administration shall be responsible for obtaining the services of a licensed eye health care professional to conduct testing using the modified clinical technique (internal and external diseases of the eye, testing of refraction and binocularity using paddle occlusion test with prism measurement) for students upon first entrance into the school. (Indiana State Department of Health; 410 IAC 3-1.1-8; filed May 11, 1988, 4:30 pm: 11 IR 3541; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

Rule 2. Lead Poisoning Testing; Sickle Cell Anemia Testing NOTE: This rule was promulgated jointly with the state board of education and also appears at 511 IAC 4-2-2.

410 IAC 3-2-1 Lead poisoning testing Authority: IC 20-34-3-1; IC 20-34-3-11 Affected: IC 20-34-3-11

Sec. 1. Lead Poisoning Test. Lead poisoning test methods shall include one or more of the following acceptable quantitative test procedures for screening or confirmatory purposes to determine the content of lead in blood, urine or other clinial specimen from human sources. (a) The acceptable quantitative test procedures for the detection of blood lead shall include the following methods: dithizone, colorimetric, atomic absorption spectrophotometric, emission spectroscopic, anodic stripping voltametric, fluorimetric test for free erythrocyte porphyrins (indirect test for blood lead), or any other procedure shown to be accurate and reliable. (b) Also acceptable is the quantitative test on urine to measure elevated urinary ALA (delta-aminolevulnic acid) as an indirect test for lead poisoning or any other accurate and reliable test on urine, specimens of hair or other clinical specimen from human sources. (Indiana State Department of Health; Rule MCH 2,Sec 1; filed Apr 10, 1974, 2:00 pm: Rules and Regs. 1975, p. 342; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

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410 IAC 3-2-2 Sickle cell anemia testing Authority: IC 20-34-3-1; IC 20-34-3-10 Affected: IC 20-34-3-10

Sec. 2. Sickle Cell Anemia. (a) The sickle cell anemia testing equipment shall be of a type generally recognized as suitable to provide accurate test results by one or more of the test procedures indicated in (c). The equipment may be of manual or automated design, subjected to whatever periodic preventive maintenance and quality control measures are necessary to assure satisfactory operation and accurate test results. (b) The qualifications of the sickle cell anemia testing personnel shall indicate sufficient training and experience in the techniques of the tests employed to assure competency in operation of the testing equipment and accuracy in the test results obtained. (c) The sickle cell anemia testing procedures shall consist of one or more test methods generally recognized as dependable and accurate for the detection of sickle cell anemia. The test procedures may be of manual or automated type. The screening tests and/or confirmatory tests recognized as useful include the sodium metabisulfite method, the solubility or dithionite-type tests, hemoglobin electrophoresis procedures, and other tests which detect sickle cell anemia. (Indiana State Department of Health; Rule MCH 2,Sec 2; filed Apr 10, 1974, 2:00 pm: Rules and Regs. 1975, p. 342; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

Rule 3. Newborn Screening

410 IAC 3-3-1 Definitions Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 1. The following definitions apply throughout this rule: (1) "Audiologist" means an audiologist licensed by the state of Indiana pursuant to the Indiana professional licensing agency board who meets the requirements outlined in Indiana's Best Practice Guidelines for Assessment and who administers short- term and long-term early hearing detection and intervention (EHDI) program follow-up. (2) "Birthing center" means any nonhospital facility in which live births routinely take place. (3) "Child" means an individual twelve (12) months to eighteen (18) years of age. (4) "Department" means the Indiana state department of health. (5) "Diagnostic audiology Level 1 facility" means a facility as defined by the department that has and uses the recommended test battery and equipment for provision of comprehensive audiological assessment of newborns and infants. (6) "EHDI follow-up" means follow-up that occurs subsequent to newborn hearing screening. Children in need of EHDI follow-up include the following: (A) Newborns or infants not yet screened (for any reason). (B) Newborns or infants who did not pass newborn hearing screening. (C) Newborns or infants who passed newborn hearing screening but have a risk indicator that could lead to late-onset hearing loss. (7) "Galactosemia" means an inherited error in the metabolism of galactose. (8) "Health care provider" means the medical professional providing care after birth. (9) "Hearing loss" means an impairment that is a dysfunction of the auditory system of any type or degree sufficient to interfere with acquisition and development of speech and language. (10) "Hearing screening" means a bilateral, physiological measurement of hearing on a newborn or infant. (11) "Hemoglobinopathy" means a condition where a person has abnormal hemoglobin that results from an inherited defect, some of which may produce a sickling phenomenon in erythrocytes. (12) "Homocystinuria" means an inherited error in the metabolism of methionine.

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(13) "Hospital" means a licensed hospital with obstetric services. (14) "Hypothyroidism" means a deficient amount or activity of thyroid hormone. (15) "Infant" means an individual who is thirty (30) days to twelve (12) months of age. (16) "Maple syrup urine disease" means an inherited error in the metabolism of leucine, isoleucine, and valine. (17) "MCH/CSHCS clinics" means clinics affiliated with the children's special health care services program of the division of maternal and child health of the department that provide services to women, children, and children with special health care needs. (18) "MCH/NBS" means division of maternal and child health, genomics and newborn screening program, at the department. (19) "Midwife" means an individual licensed under IC 25-23-1-13.1. (20) "Metabolic formula" means a nutritional supplement provided to patients diagnosed with metabolic newborn screening conditions. (21) "Newborn" means an individual who is up to twenty-nine (29) days of age. (22) "Parent" means a natural (birth) parent, stepparent, adoptive parent, legal guardian, or other legal custodian of an individual. (23) "Phenylketonuria" means an inherited error in the metabolism of phenylalanine. (24) "Physician" means an individual licensed under IC 25-22.5-5. (25) "Satisfactory blood specimen" means a blood specimen on which an accurate laboratory analysis can be performed for the disorder for which it is submitted. (26) "Unsatisfactory blood specimen" means any of the following: (A) A filter paper kit on which an insufficient quantity of blood is obtained. (B) A filter paper kit on which an accurate analysis or interpretation cannot be performed due to improper collection, handling, or submission or a technical or laboratory problem. (C) Cord blood. (D) Blood from any transfused neonate. (E) A filter paper kit that does not provide all of the information regarding the patient as required. The blood specimen within such a filter paper kit may be satisfactory according to section 3 of this rule. (Indiana State Department of Health; 410 IAC 3-3-1; filed Nov 7, 1986, 3:30 p.m.: 10 IR 415; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-2 Provision of testing information; religious objection Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 2. (a) The department shall provide public educational materials, including descriptions of the disorders and of the screening program, to hospitals, birthing centers, physicians, midwives, and other health care providers for distribution to patients. Physicians and midwives engaged in providing prenatal or perinatal care, or both, shall provide pregnant women, prior to the estimated date of delivery, with this information. Hospitals and birthing centers shall provide each pregnant woman admitted for delivery with a copy of this information prior to collection of the blood specimen. If a woman is unable to read the material, it shall be translated or read to her in a language she understands. (b) Any parent who objects to the testing for reasons pertaining to religious beliefs only shall so indicate by signing a statement of informed refusal. The objection shall become part of the medical record, and the newborn or infant shall be exempted from the testing. (Indiana State Department of Health; 410 IAC 3-3-2; filed Nov 7, 1986, 3:30 p.m.: 10 IR 416; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

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410 IAC 3-3-2.5 Equipment and supplies for newborn screening Authority: IC 16-41-17 Affected: IC 16-41-17

Sec. 2.5. (a) The state-contracted newborn screening laboratory will furnish filter paper kits, without additional cost, annually to hospitals, midwives, birthing centers, and other collections sources. Manufacturer and lot number for the filter paper must be included on the filter paper section of the kit in accordance with the Clinical Laboratory Standards Institute (CLSI)-approved national standard. Sequential system control numbers for each collection kit must be printed on each information section of the collection card and on the filter paper section, if that section is detachable. (b) The state-contracted newborn screening laboratory must provide filter paper kits, without additional cost, to local health departments, MCH/CSHCS clinics, or other outside organizations/individuals as designated by the department for the collection of newborn screening specimens. (c) The department's newborn screening program will ensure that all Indiana residents who are diagnosed with one (1) of the metabolic conditions included in the newborn screening panel have access to the appropriate metabolic formula necessary for treatment as follows: (1) A single brand of metabolic formula for each metabolic condition on the newborn screen will be designated by the state- contracted metabolic geneticist and made available to all Indiana residents as appropriate. (2) The appropriate metabolic formula will be made available to all Indiana residents diagnosed with one (1) of the metabolic conditions included on Indiana's newborn screening panel, regardless of the individual's ability to pay or socioeconomic status as follows: (A) Payment for metabolic formula will be based on a sliding-fee scale as designated by the department. (B) All efforts will be made to collect payment for metabolic formula from private insurance companies or other third- party payers. (C) The department's newborn screening program will serve as a payer of last resort for patients without private insurance coverage or for whom reimbursement cannot be obtained from another third-party payer. (d) All other costs related to purchasing equipment or supplies that are required to perform mandated newborn screening must be covered by the hospital, birthing center, midwifery, or physician practice. (Indiana State Department of Health; 410 IAC 3-3-2.5; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR- 410180328RFA)

410 IAC 3-3-3 Screening for certain disorders; collection procedures Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 3. (a) Except as provided for in section 2(b) of this rule, all newborns and infants born in the state of Indiana shall be screened for the following: (1) The following endocrine disorders: (A) Congenital adrenal hyperplasia (CAH). (B) Hypothyroidism. (2) The following hemoglobinopathies: (A) Sickle cell anemia Hb SS. (B) Hb S/C. (C) Hb S/beta-thalassemia. (D) Other Hb variant including genetic trait. (3) The following metabolic conditions: (A) The following amino acid (AA) disorders (include urea cycle disorders): (i) Arginase deficiency (argininemia). (ii) Argininosuccinic aciduria. (iii) Biopterin cofactor defects.

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(iv) Citrullinemia, type I. (v) Citrullinemia, type II (also called Citron deficiency). (vi) Homocystinuria (HCY). (vii) Hypermethioninemia. (viii) Hyperphenylalaninemia (also called H-Phe). (ix) Maple syrup urine disease (MSUD). (x) Phenylketonuria (PKU). (xi) Tyrosinemia type I. (xii) Tyrosinemia type II. (xiii) Tyrosinemia type III. (B) The following fatty acid oxidation (FAO) disorders: (i) 2, 4-dienoyl-CoA reductase deficiency. (ii) Carnitine-Acylcarnitine translocase deficiency (CACT). (iii) Carnitine palmitoyltransferase deficiency I (CPT IA). (iv) Carnitine palmitoyltransferase deficiency II (CPT II). (v) Carnitine uptake defect (CUD). (vi) Glutaric acidemia type II. (vii) Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD). (viii) Medium chain acyl-CoA dehydrogenase deficiency (MCAD). (ix) Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD). (x) Trifunctional protein deficiency. (xi) Very long chain acyl-CoA dehydrogenase deficiency (VLCAD). (xii) Medium-chain ketoacyl-CoA thiolase deficiency (MCAT). (C) The following organic acidemia (OA): (i) 2-Methylbutyrylglycinuria (2-MBG). (ii) 3-Hydroxy-3-methyl glutaric aciduria (HMG). (iii) 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency). (iv) 3-Methylglutaconic acidemia (3-MGA). (v) Beta-ketothiolase deficiency. (vi) Glutaric acidemia type I (GA type I). (vii) Isobutyrylglycinuria (IBG). (viii) Isovaleric acidemia (IVA). (ix) Malonic aciduria (MAL). (x) Methylmalonic acidemia (MUT or methylmalonyl-CoA mutase). (xi) Methylmalonic acidemia with cobalamin disorders (CblA and CblB). (xii) Methylmalonic acidemia with homocystinuria (CblC and CblD). (xiii) Propionic acidemia. (xiv) 2-Methyl-3-hydroxybutyric aciduria (2M3HBA). (4) The following other inborn errors of metabolism: (A) Biotinidase deficiency. (B) Galactosemia (classic galactosemia or G/G, galactosemia D/G variant and other galactosemia variants). (5) The following other genetic conditions: (A) Cystic fibrosis. (B) Severe combined immunodeficiencies (SCID). (C) Spinal muscular atrophy (SMA). (6) Other genetic conditions that are detectable at birth via newborn screening methods, including, but not limited to, the following: (A) Tandem mass spectrometry. (B) High performance liquid chromatography.

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(C) Isoelectric focusing. (D) Time resolved fluoroimmunoassay: immunoreactive trypsinogen (IRT) measurement. (E) Other enzymatic assay. (F) Fluorometric assay. (G) DNA mutation analysis. (b) The responsible physician, midwife, birthing center, or hospital shall collect a specimen of the newborn or infant's blood on a filter paper kit approved by the department. The specimen shall consist of capillary blood obtained by heel puncture and applied directly to the special filter paper. All circles shall be saturated with blood from one (1) side of the filter paper only. All information requested on the form attached to the special filter paper shall be provided. The specimen shall be air dried and then inserted into the protective envelope with complete data. If multiple specimens are forwarded in one (1) envelope, care must be taken to avoid cross-contamination. Completed specimens shall be forwarded to a designated laboratory within twenty-four (24) hours after collection. (c) The newborn or infant's blood for these tests shall be collected not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth, except as stated in subsections (f) and (g). (d) When a live birth occurs in a hospital or birthing center, the responsible physician or midwife shall have a specimen of the newborn or infant's blood taken prior to the newborn or infant's discharge from the hospital. If the newborn is discharged from the hospital before twenty-four (24) hours after birth, a blood specimen shall be collected regardless, but collection shall be repeated after forty-eight (48) hours and not later than one hundred twenty (120) hours after birth. The hospital or birthing center shall provide a written notice to the parents, at or before discharge, of the requirements for the newborn to be tested again prior to one hundred twenty (120) hours after birth. (e) When a live birth occurs in a facility other than a licensed hospital or birthing center, it shall be the responsibility of the physician or midwife in attendance at the birth to ensure that the newborn or infant is referred to an appropriate facility, such as a physician office, hospital, birthing center, or local health department, and to make the arrangements to obtain and submit a satisfactory blood specimen in accordance with this section. In the absence of an attending physician or midwife, the registrar of births shall refer the newborn or infant immediately to the parent's physician or to the local health department for submission of a specimen in accordance with this section and notify the MCH/NBS immediately. (f) For preterm or low birth weight (less than two thousand (2,000) grams) newborns or infants, the initial specimen shall be taken not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth. A repeat specimen collection shall be taken not earlier than fourteen (14) days and not later than thirty (30) days after birth or the day of discharge, whichever comes first. Prematurity and transfusion status shall be noted on the request form in the space provided. If the newborn or infant is to receive transfusion, then the specimen for the newborn screening test is to be obtained prior to transfusion, which represents the newborn or infant's own blood. If the pre-transfusion collection occurred before twenty-four (24) hours after birth, a repeat collection shall be taken not earlier than twenty-four (24) hours post-transfusion start time. Additional repeat collection shall be taken at fourteen (14) days and thirty (30) days or day of discharge, whichever comes first. (g) Except for newborns and infants described in subsection (f), for newborns or infants within the neonatal intensive care unit (NICU), the initial collections shall be taken not earlier than twenty-four (24) hours after birth and not later than forty-eight (48) hours after birth. A repeat collection shall be taken at fourteen (14) days and thirty (30) days or day of discharge, whichever comes first. (Indiana State Department of Health; 410 IAC 3-3-3; filed Nov 7, 1986, 3:30 p.m.: 10 IR 416; filed Sep 17, 1999, 10:42 a.m.: 23 IR 324; errata filed Nov 19, 1999, 9:31 a.m.: 23 IR 814; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR- 410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA; filed Sep 28, 2018, 2:04 p.m.: 20181024- IR-410180158FRA)

410 IAC 3-3-3.5 Pulse oximetry measurement for critical congenital heart disease Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 3.5. (a) Except as provided for in section 2(b) of this rule, every newborn shall be given a pulse oximetry screening examination:

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(1) not earlier than twenty-four (24); and (2) not later than forty-eight (48); hours after birth. Preterm newborns or infants shall be given a pulse oximetry screening, including repeat screenings, at or near the time the specimen is taken as provided for in section 3(f) of this rule. (b) Pulse oximetry screenings shall be taken from pulse oximetry readings on the right hand and one (1) foot. (c) A passing pulse oximetry reading is an initial reading or repeat readings, which is: (1) greater than or equal to ninety-five percent (95%) on the right hand or foot; and (2) less than or equal to three percent (3%) variance between the right hand and foot. (d) Except as provided in subsection (e), newborns who do not pass the initial pulse oximetry reading as described in subsection (c) shall have up to three (3) repeat readings performed at one (1) hour increments. If the newborn does not pass one (1) three (3) repeat readings as described in subsection (c), the newborn shall be immediately referred for cardiology evaluation. (e) Newborns with an initial pulse oximetry reading of less than ninety percent (90%) on right hand or foot shall be immediately referred for cardiology evaluation. (f) Newborns referred for cardiology evaluation as required in either subsection (d) or (e) shall be given, at a minimum, diagnostic testing via echocardiogram. (Indiana State Department of Health; 410 IAC 3-3-3.5; filed Sep 28, 2018, 2:04 p.m.: 20181024-IR-410180158FRA)

410 IAC 3-3-4 Designated laboratories; requirements to perform screening tests for disorders Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 4. An approved laboratory must meet the following requirements in order to perform screening tests for disorders on dried blood samples from newborns or infants: (1) Complies with Public Law 90-174, the Federal Clinical Laboratory Improvement Act of 1988, and is accredited by the College of American Pathologists, or is accredited by the Joint Commission on Accreditation of Hospitals. (2) Performs or makes reasonable assurances that it will perform each one of the above screening tests on all newborns or infants born in the state of Indiana. (3) Performs repeat newborn screening on blood specimens annually as a follow-up to abnormal screens or screens that are not legally valid as described above. (4) Uses laboratory procedures and values for normal and abnormal test results that have been submitted to and approved by the department. (5) Initiates the approved tests within twenty-four (24) hours of receipt of the specimen and completes all approved tests within seventy-two (72) hours of receipt of the specimen. (6) Reports findings in a timely manner and maintains records of the results of all screening and follow-up testing in accordance with the requirements of the department. (7) Provides reports of its screening activities to the department in the format and time frame specified by the department. (8) Maintains a written quality assurance program covering all aspects of its newborn screening activity, which is approved yearly by the department. (9) Cooperates with other relevant agencies concerned with newborn or infant health care. (10) Participates in a laboratory quality assurance program, including proficiency testing, approved by the department. (Indiana State Department of Health; 410 IAC 3-3-4; filed Nov 7, 1986, 3:30 p.m.: 10 IR 417; filed Feb 25, 1988, 4:30 p.m.: 11 IR 2579; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR- 410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024- IR-410180328RFA)

410 IAC 3-3-5 Laboratory reports Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

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Sec. 5. Specific reporting/follow-up requirements vary based on whether the analysis indicated whether the specimen met all requirements for a valid screening test and whether the screening results were normal, unsatisfactory, abnormal, presumptive positive, or confirmed positive. The laboratory shall report as follows: (1) Negative test results shall be reported within seven (7) days of the date of receipt of the specimen to the following: (A) MCH/NBS. (B) The hospital or birthing center submitting the specimens. (C) The responsible physician or midwife. The report of the test results shall become part of the patient's clinical record. (2) Presumptive positive tests shall be reported immediately by telephone to the hospital, birthing center, responsible physician, midwife, or collection source. The notification shall be recorded in the laboratory's records, specifying date and time of notification, person notified, and information provided. This shall be followed by an official report within three (3) days. The report of the test result shall become part of the patient's clinical record. If there is no known responsible physician or midwife, the appropriate state-contracted newborn screening follow-up specialist shall be notified. (3) Confirmed positive tests shall be reported immediately by telephone to the hospital, birthing center, responsible physician, or midwife and MCH/NBS. The notification shall be recorded in the laboratory's records specifying date and time of notification, person notified, and information provided. This shall be followed by an official report within three (3) days. The report of the test result shall become part of the patient's clinical record. If there is no known responsible physician or midwife, the local health officer in the county of the mother's residence shall be notified. (4) Unsatisfactory specimens shall be reported immediately by telephone to the hospital or birthing center and responsible physician, midwife, or other health care provider submitting the specimen with an explanation about the reason for rejection. In the event that the responsible physician, midwife, or health care provider who submitted the specimen is no longer the primary health care provider, he or she shall be responsible for notifying the current primary health care provider. (5) In the event a specimen is rejected for any reason as unsatisfactory, the health care provider responsible for the newborn or infant's care at the time of the report shall be responsible for the submission of an acceptable specimen within forty-eight (48) business hours. If the laboratory does not receive the repeat specimen within five (5) days, it shall send the collection source and responsible health care provider notification of the requirement for a repeat screen, with a copy provided for MCH/NBS. A reminder will be sent five (5) business days after the initial notification if no repeat specimen has been received. The laboratory will notify MCH/NBS immediately by telephone if no repeat specimen has been received seven (7) to ten (10) business days after the reminder letter has been sent so that public health nurse assistance can be obtained. (6) The designated laboratories performing the tests shall maintain records of the results of all screening and follow-up testing of newborns or infants for these conditions in accordance with Indiana requirements for records management. (7) The laboratory shall provide newborn heel-stick, pulse oximetry, and hearing screening reports to the department in the format, media, and time frame specified by the department. (Indiana State Department of Health; 410 IAC 3-3-5; filed Nov 7, 1986, 3:30 p.m.: 10 IR 417; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA; filed Sep 28, 2018, 2:04 p.m.: 20181024-IR-410180158FRA)

410 IAC 3-3-6 Maintenance of screening logs; follow-up of missing results; monthly reports as submitted by hospitals, birthing centers, midwives, and physicians providing home birth services Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 6. (a) Each hospital or birthing center, and midwife or physician submitting screening tests on newborns or infants born outside a hospital or birthing center shall maintain a newborn screening log that shall contain the following: (1) Name of newborn or infant. (2) Attending physician or midwife. (3) Medical record number. (4) Form number of sample sent.

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(5) Date sample collected. (6) Date sample sent. (7) Date results received. (8) What the results were. (9) Name of person notified of positive results and date and time of notification. All such information and records shall be confidential but shall be open to examination by the department personnel or its designated agents for any purpose directly connected with the administration of the newborn screening program. (b) The log shall be reviewed daily to determine that the results of required tests have been recorded within fourteen (14) days of discharge, or that a parent's signed religious waiver has been filed in the infant or newborn's medical record. (c) Whenever a hospital, birthing center, physician, or midwife determines that a discharged newborn or infant has not received the mandated tests, the hospital, birthing center, physician, or midwife shall immediately contact the responsible health care provider by telephone to inform him or her that a specimen must be obtained and immediately send a written notification to the responsible health care provider and MCH/NBS. If the responsible health care provider cannot be contacted within three (3) days or will not obtain a specimen, the hospital, birthing center, physician, or midwife shall notify MCH/NBS immediately by telephone and shall send written notification within three (3) days to MCH/NBS. MCH/NBS shall then immediately notify the local health officer, who shall arrange collection of a specimen. (d) Whenever a hospital, birthing center, physician, or midwife determines that a specimen has been obtained but there are no results available in the infant or newborn's medical record within fourteen (14) days of discharge, the hospital, birthing center, physician, or midwife shall obtain the results from the laboratory by telephone and request that another written copy be sent. The hospital, birthing center, physician, or midwife shall also notify MCH/NBS that results have not been received. If no results are available from the laboratory, then the hospital, birthing center, physician, or midwife shall proceed as in section 7(c) of this rule. (e) When the responsible health care provider is notified by telephone by the hospital, birthing center, physician or midwife that a newborn or infant was discharged before a specimen was taken, or if the health care provider determines from his or her own records that no test has been performed or that no results are available, the responsible health care provider shall make every reasonable effort to have a specimen obtained within three (3) days of notification. If the responsible health care provider cannot obtain the specimen, the health care provider shall notify MCH/NBS immediately by telephone. The telephone notification shall be noted in the responsible health care provider's record, specifying the date of notification, the person notified, and the information provided. (f) When the responsible health care provider is notified by the laboratory by telephone that a specimen is inadequate, the health care provider so notified shall make every reasonable effort to have an adequate repeat specimen obtained within forty-eight (48) hours of notification. If the responsible health care provider so notified cannot obtain the repeat specimen, the health care provider shall notify MCH/NBS immediately by telephone. The telephone notification shall be noted in the responsible health care provider's records specifying the time and date of notification, the person notified, and the information provided. (g) All repeat specimens shall be forwarded to a designated laboratory within twelve (12) hours after they have been obtained. (h) MCH/NBS shall make every reasonable effort to follow up on all newborns and infants that have been reported as not having received a completed screening in an attempt to ensure that all newborns and infants born in the state of Indiana will have received the required screening for disorders. (i) Hospitals, birthing centers, midwives, and physicians providing home birth services shall provide monthly reports to the department indicating the total number of live births and the number of newborns or infants for whom specimens were submitted for initial newborn screening. (Indiana State Department of Health; 410 IAC 3-3-6; filed Nov 7, 1986, 3:30 p.m.: 10 IR 418; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-7 Follow-up of positive results, recommendations Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 7. (a) When the responsible health care provider is notified by telephone by the laboratory of an initial presumptive positive test result, the responsible health care provider shall obtain the department approved repeat blood specimen from the

Indiana Administrative Code Page 12 MATERNAL AND CHILD HEALTH newborn or infant and submit it to the designated laboratory within forty-eight (48) hours. If the blood specimen cannot be obtained within forty-eight (48) hours, the responsible health care provider shall notify MCH/NBS by telephone. The telephone notification shall be noted in the responsible health care provider's records, specifying the date of notification, the person notified, and the information provided. MCH/NBS will notify the local health officer and provide the necessary follow-up to ensure that the repeat blood specimen is obtained. (b) It shall be the responsibility of the responsible health care provider or, if none, the local health officer to report the following immediately to the newborn or infant's parent: (1) All abnormal results from the newborn screening test in order to recommend appropriate diagnostic and possible therapeutic procedures. (2) Any diagnosis of a disorder in order to recommend appropriate therapeutic procedures and psychosocial support. (c) When the repeat blood specimen supports a presumptive diagnosis of a disorder, the laboratory shall notify MCH/NBS and the responsible health care provider or local health officer, as appropriate. (d) When the responsible health care provider is notified of a presumptive positive or abnormal newborn screening result for a newborn or infant in the neonatal intensive care unit (NICU), regardless of whether the specimen was an initial or routine repeat specimen, the responsible health care provider shall provide follow-up as outlined above. (e) The responsible health care provider retains responsibility for the newborn, infant, or child's case management as the primary health care provider and shall make arrangements for the necessary diagnosis, therapy, and genetic counseling about the clinical and etiologic nature of the disorder, the chance of recurrence in subsequent children and other family members, existing resources for comprehensive clinical management, and family emotional and financial support. These can be provided directly by the responsible health care provider or by referral to appropriate specialists. (f) The department shall advise the responsible health care provider of the available referrals and programs for further evaluation, genetic counseling, and management available to the patient and family. These shall include, but are not limited to, care by the following: (1) A clinical biochemical geneticist for newborns, infants, or children with the following: (A) Phenylketonuria. (B) Galactosemia. (C) Maple syrup urine disease. (D) Homocystinuria. (E) Other metabolic conditions included on the newborn screen. (2) A pediatric hematologist for newborns, infants, or children with a clinically significant hemoglobinopathy. (3) A pediatric pulmonologist for newborns, infants, or children with cystic fibrosis. (4) A pediatric endocrinologist for newborns, infants, or children with hypothyroidism or congenital adrenal hyperplasia. (5) An audiologist, otolaryngologist, or other specialist for newborns, infants, or children with hearing loss. In the case of newborns, infants, or children identified as carriers of an inherited hemoglobin abnormality (individuals with trait), the department shall recommend further evaluation of parents and appropriate counseling. (g) All physicians and audiologists making an initial diagnosis of a treatable disorder for which testing is required under IC 16-41-17 shall report such diagnosis and the information necessary for follow-up to the department. The reporting is mandatory for physicians and audiologists making the initial diagnosis and should be reported in the format and media approved by the department. Physicians and audiologists caring for Indiana newborns, infants, or children who have been diagnosed outside the state of Indiana with a disorder for which testing is required under IC 16-41-17 shall report in a similar manner. (h) The department shall maintain the following: (1) A tracking system for follow-up of newborn screening results. (2) A confidential registry of every newborn or infant born for whom the diagnosis of: (A) phenylketonuria; (B) hypothyroidism; (C) galactosemia; (D) maple syrup urine disease; (E) homocystinuria; (F) hemoglobinopathy;

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(G) cystic fibrosis; (H) hearing loss; or (I) another metabolic or endocrine condition; has been confirmed. These records shall be utilized only for the purpose of service delivery and program administration and shall be managed in accordance with 410 IAC 21-3. (i) The department shall develop and maintain a statewide network of genetic evaluation and counseling services. Regional genetic services centers and outreach services from these centers shall serve as local evaluation and counseling resources for the follow-up program described in this section. (Indiana State Department of Health; 410 IAC 3-3-7; filed Nov 7, 1986, 3:30 p.m.: 10 IR 419; filed Feb 25, 1988, 4:30 p.m.: 11 IR 2579; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-7.1 Newborn screening fund; fees; disposition; reporting requirements (Repealed)

Sec. 7.1. (Repealed by Indiana State Department of Health; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR- 410100504FRA)

410 IAC 3-3-8 Grounds for filing a complaint (Repealed)

Sec. 8. (Repealed by Indiana State Department of Health; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR- 410100504FRA)

410 IAC 3-3-9 Newborn hearing screening responsibilities Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 9. (a) The department's early hearing and detection intervention (EHDI) program is: (1) located organizationally within the department's newborn screening program; and (2) the program responsible for ensuring that all newborns or infants born in the state of Indiana receive appropriate newborn hearing screening and follow-up as necessary. As the responsibilities, protocols, and reporting requirements for hearing screening differ from those for traditional heel-stick newborn screening, separate sections were created for newborn hearing screening. (b) As outlined in section 3 of this rule, all newborns and infants born in the state of Indiana shall be screened for hearing loss. (c) The department's EHDI program shall be the lead coordinating agency in Indiana responsible for development, implementation, and coordination of the EHDI system and oversight of the EHDI process. The department shall administer the EHDI program in a manner consistent with the 2007 joint committee on infant hearing (JCIH) position statement. (d) Hospitals, physicians, audiologists, and all other personnel shall comply with these timelines by assisting the department's EHDI program through early assessment, prompt referral, and prompt reporting via the specified reporting method or methods to the department's EHDI program. (e) Each hospital or birthing center shall do the following: (1) Designate a person to be responsible for the universal newborn hearing screening (UNHS) program in that facility. This person will act as the single point of contact between the hospital or birthing center and the department. This person shall ensure all personnel performing UNHS are appropriately trained and develop a quality assurance/performance improvement component of the hospital or birthing center's UNHS program to ensure compliance with all EHDI program rules, regulations, and guidelines. (2) Make a reasonable effort to do the following: (A) Perform newborn hearing screening for each newborn or infant prior to the newborn or infant's discharge. (B) Rescreen newborns or infants that do not pass the initial newborn hearing screening prior to the newborn or infant's discharge.

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(3) Report newborn hearing screening results to the newborn or infant's health care provider and to the department as specified in section 12 of this rule. (Indiana State Department of Health; 410 IAC 3-3-9; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-10 Equipment and supplies for newborn hearing screening Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 10. (a) All materials and supplies required to perform newborn hearing screening are the responsibility of the screening facility. (b) Each screening facility shall calibrate the screening equipment annually or according to the manufacturer's guidelines. Each screening facility shall provide a copy of the manufacturer's guidelines to the department upon request. (c) Educational materials, including a hearing screening certificate, shall be provided to the newborn or infant's parent by the screening facility. (Indiana State Department of Health; 410 IAC 3-3-10; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR- 410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-11 Hearing screening protocols for hospital birthing facilities and midwives Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 11. (a) Prior to the hearing screening of a newborn or infant, the hospital or birthing center shall provide information explaining the importance of newborn hearing screening and follow-up in writing to the newborn or infant's parents. (b) The responsible physician, midwife, birthing center, or hospital shall conduct a hearing screening of the newborn or infant's ears via the recommended method or methods as accepted by the department. Hearing screening shall mean a test to detect hearing thresholds of thirty (30) decibels (dB) or greater in the speech frequency range of each ear. (c) The newborn or infant's hearing should be screened after six (6) hours of age and prior to discharge as follows: (1) Preterm newborns or infants (born prior to thirty-five (35) weeks gestational age) who stay in the nursery greater than five (5) days should have hearing screening when the newborn or infant is medically stable, but prior to discharge. (2) Newborns or infants who reside for greater than five (5) days in the neonatal intensive care unit (NICU), especially those who have complicated birth factors, are considered to be at significantly greater risk for types of neural hearing loss, such as auditory neuropathy/dyssynchrony. These newborns or infants should receive hearing screening or diagnostic testing, or both, as recommended by the department. (3) When possible, inpatient diagnostic testing shall be made available to long-stay newborns or infants who do not pass the initial newborn hearing screening and one (1) rescreen (for a total of two (2) hearing screenings). (d) The only acceptable reason for not screening the hearing of a newborn or infant is if the parent of the newborn or infant objects, in writing, to the screening based on religious beliefs. (e) If a newborn or infant is transferred to a hospital prior to receiving newborn hearing screening, the responsibility for completing the newborn hearing screening is shared between the birth and transferred facilities. If newborn hearing screening occurs at the transferred hospital, hearing screening results should be shared with the birth hospital or birthing center via the reporting method and format specified by the department's early hearing and detection intervention (EHDI) program. (f) If a newborn or infant is not successfully screened or did not receive a newborn hearing screening prior to discharge, the hospital or birthing center shall provide an outpatient hearing screening for this newborn or infant. (g) For newborns or infants who do not pass the initial newborn hearing screening, hearing should be rescreened one (1) additional time in both ears (regardless of previous screening results) prior to and as close to discharge as possible (for a total of two (2) hearing screenings). Preterm infants or newborns (born prior to thirty-five (35) weeks gestational age) who do not pass the initial newborn hearing screening should be rescreened one (1) additional time in both ears (regardless of previous screening results) prior to and as close as possible to discharge (for a total of two (2) hearing screenings). (h) If a newborn or infant does not pass:

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(1) his or her newborn hearing screening; and (2) the rescreen prior to discharge; for a total of two (2) hearing screenings, the birthing center or hospital shall contact an approved diagnostic audiology Level 1 facility to schedule an appointment for an outpatient diagnostic hearing test. The birthing center or hospital shall provide the location, date, and time of the appointment to the infant or newborn's parent, health care provider, and the department's EHDI program. (i) Inpatient diagnostic testing shall be made available, when possible, for long-stay newborns or infants who do not pass the initial newborn hearing screening and one (1) rescreen (for a total of two (2) hearing screenings). (j) If a newborn or infant passes the newborn hearing screening, but has risk indicators for late-onset or progressive hearing loss, the hospital shall do the following: (1) Inform the newborn or infant's parent in writing of the risk indicator. (2) Provide written documentation of language and hearing milestones. (3) Recommend a follow-up test at an approved diagnostic audiology Level 1 facility to be done when the infant is between nine (9) and twelve (12) months of age. This information shall also be provided in writing to the newborn or infant's health care provider and to the department's EHDI program via the reporting method and format specified by the department's EHDI program. (k) Midwives shall follow all newborn hearing screening protocols as outlined for birthing centers and hospitals. Newborn hearing screening should be performed on all newborns prior to one (1) month of age, using portable equipment if needed. (1) If midwives cannot provide direct screening for the newborns in their care, they shall have a designated referral site for these newborns to receive the hearing screening prior to one (1) month of age. (2) If a newborn or infant does not pass: (A) his or her newborn hearing screening; and (B) a second hearing screening; the midwife shall contact an approved diagnostic audiology Level 1 facility to schedule an appointment for an outpatient diagnostic hearing test. The midwife shall provide the location, date, and time of the appointment to the newborn or infant's parent, health care provider, and the department's EHDI program. (l) Diagnostic audiology Level 1 facilities must meet the following requirements in order to perform diagnostic hearing evaluations on newborns or infants referred from newborn hearing screening programs: (1) The audiologist or audiologists: (A) must be licensed by the state of Indiana; and (B) shall have experience in performing diagnostic audiological assessments of newborns and infants. (2) The facility: (A) shall conduct the assessment in accordance with Indiana's Best Practice Guidelines For Audiologic Assessment, Pediatric Amplification, and Intervention of the Infant dated October 2010; and (B) must have and routinely use recommended equipment for newborn and infant diagnostic testing. (Indiana State Department of Health; 410 IAC 3-3-11; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-12 Newborn hearing screening reports Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 12. (a) Hearing screening results shall be provided in writing to the newborn or infant's parent prior to discharge. (b) Hearing screening results (from the hearing screening equipment or from the heel-stick card) for every newborn, infant, or child that receives a screen shall be provided to the department's early hearing detection and intervention (EHDI) program in the format, media, and time specified by the department's EHDI program. (c) The birthing center or hospital shall report all screening exceptions within five (5) business days, including the following: (1) Newborns or infants who are not screened due to equipment or hospital error. (2) Newborns or infants who do not pass the initial newborn hearing screening and one (1) additional rescreen prior to

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discharge (for a total of two (2) hearing screenings). (3) Newborns or infants at risk for late-onset hearing loss. (d) If a newborn or infant is not successfully screened or did not receive a newborn hearing screening prior to discharge, the birthing center or hospital shall report these results as follows: (1) To the newborn or infant's parent orally and in writing. (2) To the newborn or infant's health care provider and the department's EHDI program. (e) If a newborn or infant does not pass his or her newborn hearing screening and does not pass the rescreen prior to discharge (for a total of two (2) hearing screenings), the birthing center or hospital shall report these results as follows: (1) To the newborn or infant's parent orally and in writing. (2) To the newborn or infant's health care provider and the department's EHDI program. (3) The birthing center or hospital shall also contact an approved diagnostic audiology Level 1 facility and schedule an appointment for an outpatient diagnostic hearing test. The location, date, and time of the appointment shall be provided to the newborn or infant's health care provider and the department's EHDI program. (f) If a newborn or infant passes the newborn hearing screening, but has risk indicators for late-onset or progressive hearing loss, the birthing center or hospital shall do the following: (1) Inform the newborn or infant's parent of the risk indicator in writing. (2) Provide the newborn or infant's parent with written documentation of language and hearing milestones. (3) Recommend a follow-up test at an approved diagnostic audiology Level 1 facility to be done when the infant is between nine (9) and twelve (12) months of age. (4) Provide documentation of the hearing screening results, risk indicator, language and hearing milestones, and recommendation for follow-up test to the newborn, infant, or child's health care provider in writing. (5) Report the hearing screening results and risk indicator to the department's EHDI program. (g) Each birthing center or hospital shall complete and submit to the department's EHDI program a monthly summary report (MSR) by the fifteenth day of the following month. MSR data shall be submitted in the format and media specified by the department's EHDI program. (h) Newborn hearing screening reports to be completed by physicians or midwives providing home birth services shall comply with the following: (1) Midwives or physicians shall report all newborn hearing screening results to the newborn, infant, or child's health care provider (if designated) and to the department's EHDI program. (2) Midwives or physicians shall report all newborns or infants who: (A) did not receive a newborn hearing screening; (B) did not pass a newborn hearing screening; or (C) passed the newborn hearing screening but have a risk indicator for late-onset hearing loss; to the department's EHDI program. (3) Each midwife or physician providing home birth services must complete an MSR by the fifteenth day of the following month. (i) Diagnostic audiology Level 1 facilities shall report results of diagnostic audiological evaluations as follows: (1) Results shall be reported for each ear separately. (2) Assessment results shall be reported to the department's EHDI program, regardless of audiological findings. (3) Results shall include a statement of the severity and type of hearing loss identified. (4) Results shall be reported within five (5) business days following the assessment. (j) Each screening facility shall make available the following items to the department's EHDI program in the reporting method and format specified by the department: (1) The name of the current person at the screening facility designated as the point of contact. (2) The type of hearing screening equipment utilized. (3) Equipment calibration records. (4) Whether the hearing screening program at that screening facility is conducted by screening facility personnel or is contracted to an outside entity. (5) Hearing screening protocols.

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(6) Test procedure or procedures used by the screening facility's universal newborn hearing screening program. (7) Pass criteria that minimally meet guidelines established by the department's EHDI program. (8) A description of the screening facility quality assurance/quality improvement program. (k) By reporting all audiologic findings to the department as outlined above, audiologists meet the reporting requirements of the Indiana birth defects and problems registry (IBDPR) for children who are diagnosed with permanent hearing loss between birth and three (3) years of age. (Indiana State Department of Health; 410 IAC 3-3-12; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR- 410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

410 IAC 3-3-13 Newborn screening fund; fees; disposition; reporting requirements Authority: IC 16-19-3-4; IC 16-41-17-9; IC 16-41-17-10 Affected: IC 16-41-17

Sec. 13. (a) The program involving the department and MCH/NBS as described in this rule shall be funded by the collection of a newborn screening fee for each initial newborn screening performed. The designated laboratory shall assess and collect the full amount of the newborn screening fee from hospitals, birthing centers, public health nurses, physicians, and midwives submitting newborn screening specimens. No surcharge will be assessed, collected, or reported for newborns or infants receiving repeat screens. The accumulated collections from the newborn screening fees shall be submitted on a monthly basis by the designated laboratory to the division of finance at the department. Payments shall be postmarked not later than five (5) days after the close of the preceding month. The designated laboratory shall also submit a monthly report on the number of newborns screened. Revenues submitted by the laboratory shall correspond with the number of newborns screened. (b) The newborn screening fee shall be one hundred dollars ($100) based on the projected cost of the program described in this rule and the estimated number of newborns per year. The fees shall be deposited in the newborn screening fund. Funds for the program described in this rule shall be disbursed by the department in accordance with normal procedures prescribed by the state budget agency and the state board of accounts. The fee shall be reviewed annually by the department. (Indiana State Department of Health; 410 IAC 3-3-13; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA; filed Sep 28, 2018, 2:04 p.m.: 20181024-IR-410180158FRA)

410 IAC 3-3-14 Grounds for filing a complaint Authority: IC 16-19-3-4; IC 16-41-17-9 Affected: IC 16-41-17

Sec. 14. The willful or repeated failure of any: (1) physician; (2) midwife; (3) laboratory; (4) hospital; (5) birthing center; or (6) other health care provider; to comply with the provisions of this rule shall, in addition to any other penalty prescribed by law, constitute grounds for filing a complaint with the individual's or institution's licensing board in addition to other legal remedies. (Indiana State Department of Health; 410 IAC 3-3-14; filed Apr 25, 2012, 3:46 p.m.: 20120523-IR-410100504FRA; readopted filed Sep 26, 2018, 2:48 p.m.: 20181024-IR-410180328RFA)

Indiana Administrative Code Page 18

GNBS 49 CONDITIONS

Endocrine Disorders

 Congenital adrenal hyperplasia (also called CAH)  Hypothyroidism

Hemoglobinopathies

 Sickle cell anemia HbSS  Hb S/C  Hb S/Beta thalassemia  Other Hb variant including genetic trait

Inborn Errors of Metabolism

Amino Acid (AA) Disorders (includes Urea Cycle Disorders)

 Arginase Deficiency (also called Argininemia)  Argininosuccinic Aciduria  Biopterin Cofactor Defects  Citrullinemia, type I  Citrullienemia, type II (also called Citron Deficiency)  Hypermethioninenemia  Hyperphenylalaninemia (also called H-Phe)  Maple syrup urine disease (also called MSUD)  Phenylketonuria (also called PKU)  Tyrosinemia, type I  Tyrosinemia, type II  Tyrosinemia, type III

Fatty Acid Oxidation (FAO) Disorders

 2,4-Dienoyl-CoA Reductase Deficiency  Carnitine-acylcarnitine translocase deficiency (also called CACT)  Carnitine palmitoyltransferase deficiency I (also called CPT IA)  Carnitine palmitoyltransferase deficiency II (also called CPT II)  Carnitine uptake defect (also called CUD)  Glutaric acidemia type II (also called GA type II, electron transfer flavoprotein deficiency, ETF deficiency, multiple acyl-CoA dehydrogenase deficiency, or electron transferLong chain Hydroxyacyl-CoA dehydrogenase deficiency (also called LCHAD  Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency (also called LCHAD)  Medium-chain acyl-CoA dehydrogenase deficiency (also called MCAD)  Medium/short chain L-3-hydroxyacyl-CoA Dehydrogenase Deficiency (also called M/SCHAD)  Short-chain acyl-CoA dehydrogenase deficiency (SCAD)  Short-chain hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)  Trifunctional Protein Deficiency  Very long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

Organic Acidemias (OA)

 2-Methylbutyrylglycinuria (also called 2-MBG)  3-Hydroxy-3-methylglutaric aciduria (also called HMG)  3-Methylcrotonyl-CoA carboxylase deficiency (also called 3-MCC deficiency)  3-Methylglutaconic acidemia (also called 3-MGA)  Beta-ketothiolase deficiency  Glutaric acidemia, type I (also called GA type I)  Isobutrylglycinuria (also called IBG)  Isovaleric acidemia (also called IVA)  Malonic aciduria (also called MAL)  Methylmalonic acidemia (also called MUT or methylmalonyl-CoA mutase)  Methylmalonic acidemia with cobalamin disorders (CblA & CblB)  Methylmalonic academia with homocystinuria (CblC & CblD)  Multiple-CoA carboxylase deficiency  Propionic acidemia

Other Inborn Errors of Metabolism

 Biotinidase deficiency  Galactosemia (also called classic galactosemia or G/G) - includes testing for galactosemia D/G variant & other galactosemia variants

Other Genetic Conditions

 Cystic Fibrosis  Severe Combined Immunodeficiency  Spinal Muscular Atrophy

 Hearing Loss  Critical Condition Heart Disease (7 different heart defects detected)

49 CONDICIONES DE GNBS

Trastornos endocrinos

 Hiperplasia congénita suprarrenal (CAH)  Hipotiroidismo

Enfermedades relacionadas con la hemoglobina

 Anemia de células falciformes (incluye pruebas de anemia S/C y beta talasemia)

Errores innatos del metabolismo

Trastornos de los aminoácidos (AA) (incluye trastornos de los ciclos de la urea)  Deficiencia de la arginasa (argininemia)  Aciduria argininosuccinica  Defectos de la biosíntesis del cofactor biopterina  Citrulinemia (CIT tipo I)  Deficiencia de la citrina (CIT tipo II)  Homocistinuria (HCY) (en español)  Hipermetioninenemia  Hiperfenilalaninemia  Enfermedad urinaria del jarabe de arce (MSUD)  Fenilcetonuria (PKU)  Tirosinemia tipo I  Tirosinemia tipo II  Tirosinemia tipo III

Trastornos de oxidación de los ácidos grasos (FAO)

 Deficiencia de 2,4-dienoil-CoA reductasa  Deficiencia de carnitina acilcarnitina translocasa (CACT)  Deficiencia de carnitina palmitoil transferasa I (CPT IA)  Deficiencia de carnitina palmitoil transferasa II (CPT II)  Defecto en la absorción de la carnitina (CUD)  Acidemia glutárica tipo II (también llamada GA tipo II, deficiencia de la flavoproteína de transferencia, deficiencia de ETF, deficiencia múltiple de acil-CoA deshidrogenasa, o deficiencia múltiple de la deshidrogenasa FAD)  Deficiencia de hidroxiacil-CoA deshidrogenasa de cadena larga (LCHAD)  Deficiencia de acil-CoA deshidrogenasa de cadena media (MCAD)  Deficiencia de acil-CoA deshidrogenasa de cadena corta (SCAD)  Deficiencia de hidroxiacil-CoA de cadena corta (SCHAD  Deficiencia de la enzima trifuncional  Deficiencia de acil-CoA deshidrogenasa de cadena muy larga (VLCAD)

Acidemias orgánicas (OA)  2-metilbutiril glicinuria (2-MBG)  Aciduria glutárica de 3-hidroxi-3-metil (HMG)  Deficiencia de 3-metilcrotonil-CoA carboxilasa (deficiencia de 3-MCC)  Acidemia de 3-metilglutacónica (3-MGA)  Deficiencia de beta cetotiolasa  Acidemia glutárica, tipo I (GA tipo I)  Isobutiril glicinuria (IBG)  Acidemia isovalérica (IVA)  Aciduria malónica (MAL)  Acidemia metilmalónica (MUT o metilmalonil-CoA mutasa)  Acidemia metilmalónica con trastornos de cobalamina (CblA y CblB)  Acidemia metilmalónica con homocistinuria (CblC y CblD)  Deficiencia múltiple de CoA carboxilasa  Acidemia propiónica Otros errores innatos del metabolismo  Deficiencia de la biotinidasa  Galactosemia (galactosemia clásica o G/G) Incluye pruebas para detectar la variante D/G de la galactosemia y otras variantes de la galactosemia Otras condiciones genéticas

 Fibrosis quística  Inmunodeficiencia combinada severa  Atrofia muscular en la columna  Pérdida de la audición  Enfermedad cardíaca congénita crítica (7 defectos diferentes del corazón detectados) IC 16-38-4 Chapter 4. Birth Problems Registry 16-38-4-1 "Birth problems" 16-38-4-2 "Other severe disability" 16-38-4-3 "Patient" 16-38-4-4 "Person" 16-38-4-5 "Registry" 16-38-4-6 "State department" 16-38-4-7 Rules to define birth problems; reporting requirements 16-38-4-8 Department to establish birth problems registry; rationale; sources of data; report 16-38-4-9 Reports of birth problems to registry 16-38-4-10 Confidentiality of information 16-38-4-11 Access to confidential information for research 16-38-4-12 Requests for additional information 16-38-4-13 Release of confidential information 16-38-4-14 Persons reporting to registry; immunity from liability for released information 16-38-4-15 Epidemiological and environmental information; release permitted 16-38-4-16 Educational programs 16-38-4-16.5 Review of medical records 16-38-4-17 Birth problems registry fund 16-38-4-18 Reports by department 16-38-4-19 Repealed

IC 16-38-4-1 "Birth problems" Sec. 1. As used in this chapter, "birth problems" means one (1) or more of the following conditions: (1) A structural deformation. (2) A developmental malformation. (3) A genetic, inherited, or biochemical disease. (4) A condition of a chronic nature, including central nervous system hemorrhage or infection of the central nervous system, that may result in a need for long term health care. (5) An autism spectrum disorder that is recognized in an individual at any age. (6) A fetal alcohol spectrum disorder that is recognized before a child becomes five (5) years of age. (7) Any other severe disability that is: (A) designated in a rule adopted by the state department; and (B) recognized in a child after birth and before the child becomes three (3) years of age. (8) Complications resulting from a home delivery. As used in this subdivision, "home" includes the delivery of a viable fetus at a home or other non-health care facility. As added by P.L.180-1993, SEC.2. Amended by P.L.93-2001, SEC.3; P.L.17-2004, SEC.5; P.L.188-2013, SEC.19; P.L.232-2013, SEC.6; P.L.141-2014, SEC.19.

IC 16-38-4-2 "Other severe disability" Sec. 2. As used in this chapter, "other severe disability" means a severe physical disability or developmental delay that results from injury, infection, or disease, is chronic in nature, and requires long term health care. As added by P.L.180-1993, SEC.2. Amended by P.L.23-1993, SEC.76.

IC 16-38-4-3 "Patient" Sec. 3. As used in this chapter, "patient" means: (1) a child born with a birth problem; or (2) a parent or a guardian of a child born with a birth problem. As added by P.L.180-1993, SEC.2.

Indiana Code 2017 IC 16-38-4-4 "Person" Sec. 4. As used in this chapter, "person" means an individual, association, partnership, corporation, or governmental entity. As added by P.L.180-1993, SEC.2.

IC 16-38-4-5 "Registry" Sec. 5. As used in this chapter, "registry" refers to the birth problems registry established under this chapter. As added by P.L.180-1993, SEC.2.

IC 16-38-4-6 "State department" Sec. 6. As used in this chapter, "state department" refers to the state department of health. As added by P.L.180-1993, SEC.2.

IC 16-38-4-7 Rules to define birth problems; reporting requirements Sec. 7. (a) The state department shall adopt rules under IC 4-22-2 to: (1) define a birth problem; and (2) establish reporting requirements regarding birth problems for: (A) hospitals; (B) physicians; (C) local health departments; (D) home deliveries, as described in section 1(8) of this chapter; and (E) other health care providers designated by the state department. (b) In adopting rules regarding the reporting of birth problems, the state department shall give consideration to the following factors: (1) The extent to which a condition can be measured or identified. (2) The extent to which there is a known intervention for a condition. (3) The significance of the burden imposed on the life of the individual by a condition. (4) Other factors that the state department determines appropriate. As added by P.L.180-1993, SEC.2. Amended by P.L.93-2001, SEC.4; P.L.232-2013, SEC.7.

IC 16-38-4-8 Department to establish birth problems registry; rationale; sources of data; report Sec. 8. (a) The state department shall establish a birth problems registry for the purpose of recording all cases of birth problems that occur in Indiana residents and compiling necessary and appropriate information concerning those cases, as determined by the state department, in order to: (1) conduct epidemiologic and environmental studies and to apply appropriate preventive and control measures; (2) except for an autism spectrum disorder, inform the parents of children with birth problems: (A) at the time of discharge from the hospital; or (B) if a birth problem is diagnosed during a physician or hospital visit that occurs before the child is: (i) except as provided in item (ii), three (3) years of age at the time of diagnosis; or (ii) five (5) years of age at the time of diagnosis if the disorder is a fetal alcohol spectrum disorder; about physicians care facilities, and appropriate community resources, including local step ahead agencies and the infants and toddlers with disabilities program (IC 12-12.7-2); (3) except as provided in subsection (d), inform: (A) the individual with problems at any age; or

Indiana Code 2017 (B) the individual's parent; at the time of diagnosis, if the individual's disorder is an autism spectrum disorder, about physicians and appropriate state and community resources, including local step ahead agencies and the infants and toddlers with disabilities program (IC 12-12.7-2); or (4) inform citizens regarding programs designed to prevent or reduce birth problems. (b) The state department shall record in the birth problems registry: (1) all data concerning birth problems of children that are provided from the certificate of live birth; (2) any additional information that may be provided by an individual or entity described in section 7(a)(2) of this chapter concerning a birth problem that is: (A) designated in a rule adopted by the state department; and (B) recognized: (i) after the child is discharged from the hospital as a newborn; (ii) before the child is five (5) years of age if the child is diagnosed with a fetal alcohol spectrum disorder; (iii) before the child is three (3) years of age for any diagnosis not specified in items (ii) and (iv); and (iv) at any age if the individual is diagnosed with an autism spectrum disorder; and (3) information reported to the state department by the office of the secretary under IC 12-12-9-3 concerning a child who is less than five (5) years of age and diagnosed with a visual impairment or blindness. (c) The state department shall: (1) provide a physician and a local health department with necessary forms for reporting under this chapter; and (2) report in an electronic format under IC 5-14-6 to the legislative council any birth problem trends that are identified through the data collected under this chapter. (d) Concerning an individual who is at least eight (8) years of age and diagnosed with an autism spectrum disorder, the state department is not required to do any of the following: (1) Report information to the federal Centers for Disease Control and Prevention. (2) Confirm the individual's diagnosis. (3) Verbally inform an individual of the information set forth in subsection (a)(3). As added by P.L.180-1993, SEC.2. Amended by P.L.93-2001, SEC.5; P.L.11-2002, SEC.1; P.L.28-2004, SEC.138; P.L.17-2004, SEC.6; P.L.2-2005, SEC.57; P.L.93-2006, SEC.14; P.L.188-2013, SEC.20; P.L.141-2014, SEC.20.

IC 16-38-4-9 Reports of birth problems to registry Sec. 9. (a) Certified nurse midwives, certified direct entry midwives, and individuals and entities described in section 7(a)(2) of this chapter shall report each confirmed case of a birth problem that is recognized at the time of birth to the registry not later than sixty (60) days after the birth. An individual or entity described in section 7(a)(2) of this chapter who recognizes a birth problem in: (1) a child after birth but before the child is five (5) years of age, if the child is diagnosed with a fetal alcohol spectrum disorder; (2) an individual at any age, if the individual is diagnosed with an autism spectrum disorder; and (3) a child before the child is three (3) years of age for any birth problem diagnosis not specified in subdivisions (1) and (2); shall report the birth problem to the registry not later than sixty (60) days after recognizing the birth problem. Information may be provided to amend or clarify an earlier reported case. (b) A person required to report information to the registry under this section may use, when completing reports required by this chapter, information submitted to any other public or private registry or required to be filed with federal, state, or local agencies. However, the

Indiana Code 2017 state department may require additional, definitive information. (c) Exchange of information between state department registries is authorized. The state department may use information from another registry administered by the state department. Information used from other registries remains subject to the confidentiality restrictions on the other registries. As added by P.L.180-1993, SEC.2. Amended by P.L.93-2001, SEC.6; P.L.17-2004, SEC.7; P.L.232-2013, SEC.8; P.L.141-2014, SEC.21.

IC 16-38-4-10 Confidentiality of information Sec. 10. Except as provided in sections 11, 12, and 13 of this chapter, information that: (1) is obtained under this chapter by the state department concerning individual patients; and (2) is not otherwise a matter of public record; is for the confidential use of the state department only. As added by P.L.180-1993, SEC.2.

IC 16-38-4-11 Access to confidential information for research Sec. 11. The state department shall grant any person involved in a legitimate research activity access to confidential information concerning individual patients obtained by the state department under this chapter if: (1) the person conducting the research provides written information about the purpose of the research project, the nature of the data to be collected and how the researcher intends to analyze it, the records the researcher wishes to review, and the safeguards the researcher will take to protect the identity of the patients whose records the researcher will be reviewing; (2) the proposed safeguards are adequate to protect the identity of each patient whose records will be reviewed; and (3) an agreement is executed between the state department and the researcher that specifies the terms of the researcher's use of the records and that prohibits the publication or release of the names of individual patients or any facts tending to lead to the identification of individual patients. As added by P.L.180-1993, SEC.2.

IC 16-38-4-12 Requests for additional information Sec. 12. Researchers may, with the approval of the state department, use the names of individual patients when requesting additional information for research purposes. However, if a researcher requests additional information, the researcher must then obtain the individual patient's written consent by having the patient complete a release of confidential medical information form. As added by P.L.180-1993, SEC.2.

IC 16-38-4-13 Release of confidential information Sec. 13. The state department may release confidential information concerning individual patients to: (1) the birth problems registry of another state; and (2) physicians and local health officers for diagnostic and treatment purposes; if the patient gives written consent by completing a release of confidential medical information form. As added by P.L.180-1993, SEC.2.

IC 16-38-4-14 Persons reporting to registry; immunity from liability for released information Sec. 14. A person who reports information to the registry under this chapter is immune

Indiana Code 2017 from any civil or criminal liability that might otherwise be imposed because of the release of what is otherwise confidential information. As added by P.L.180-1993, SEC.2.

IC 16-38-4-15 Epidemiological and environmental information; release permitted Sec. 15. This chapter does not prevent the release to any interested person of epidemiological and environmental information that does not identify individual patients. As added by P.L.180-1993, SEC.2.

IC 16-38-4-16 Educational programs Sec. 16. (a) The state department shall conduct intensive educational programs for health professionals and members of the public concerning the nature and purpose of the birth problems registry, the reporting and informational requirements, and the causes and detection of birth problems. (b) The state department shall develop educational program materials appropriate for use in education concerning the transmission of HIV prenatally and neonatally. The state department shall promote the use of the educational program materials by health care providers that furnish prenatal health care services. As added by P.L.180-1993, SEC.2. Amended by P.L.126-1995, SEC.3.

IC 16-38-4-16.5 Review of medical records Sec. 16.5. To assure accurate, complete, and timely reporting of birth problems to the registry, the state department may review the medical records of an individual or entity required to report birth problems under this chapter. As added by P.L.93-2001, SEC.7.

IC 16-38-4-17 Birth problems registry fund Sec. 17. (a) The birth problems registry fund is established for the purpose of carrying out this chapter. The fund shall be administered by the state department. (b) The expenses of administering the fund shall be paid from money in the fund. (c) Money in the fund at the end of a particular fiscal year does not revert to the state general fund. (d) The state department is not required to implement the provisions of this chapter regarding birth problems described in section 1(7) of this chapter until the state department receives the funding necessary for implementation. As added by P.L.180-1993, SEC.2. Amended by P.L.93-2001, SEC.8.

IC 16-38-4-18 Reports by department Sec. 18. The state department shall report to the legislative council and the governor each year before November 1, the following: (1) The numbers and types of birth problems occurring in Indiana by county. (2) The amount of use of the birth problems registry by researchers. (3) Proposals for the prevention of birth problems occurring in Indiana. A report under this section to the legislative council must be in an electronic format under IC 5-14-6. As added by P.L.180-1993, SEC.2. Amended by P.L.28-2004, SEC.139.

IC 16-38-4-19 Repealed As added by P.L.180-1993, SEC.2. Amended by P.L.28-2004, SEC.140; P.L.193-2007, SEC.2. Repealed by P.L.149-2017, SEC.8.

Indiana Code 2017 ARTICLE 21. REPORTING

Rule 1. State Cancer Registry

410 IAC 21-1-1 Definitions Authority: IC 16-38-2-10 Affected: IC 16-38-2

Sec. 1. As used in 410 IAC 21-1: "Cancer registry" means a mechanism by which data relating to all cases of malignant disease that occur in Indiana residents is recorded and, necessary and appropriate information is compiled concerning those cases as determined by the board, in order to conduct epidemiologic surveys of cancer and to apply appropriate preventive and control measures. "Confirmed case" means the best evidence available for determining the nature of malignant disease using the following methods and codes: 1 = positive histology; 2 = positive exfoliative histology in the absence of positive histology; (3 is vacant) 4 = positive microscopic confirmation not otherwise specified (NOS); (5 is vacant) 6 = direct visualization without microscopic confirmation; 7 = radiography without microscopic confirmation; 8 = clinical diagnosis (other than 6 or 7) including gross examination at autopsy; and 9 = unspecified whether or not microscopically confirmed, unknown. This is a priority series with code 1 taking precedence. Each number takes priority over all higher numbers (i.e., 1 over 4, and 5 over 9 etc.). "Data set" means all clinical, pathological [sic.,] therapeutic and demographic information defined in 410 IAC 21-1-3 and 410 IAC 21-1-4. "ICD-O" means International Classification of Diseases for Oncology, 1976, World Health Organization publication, Organisation Mondiale De La Sante, 1211, Geneva 27, Switzerland. "Indiana resident" means an individual domiciled in the state of Indiana. "Malignant disease" means confirmed cases of cancer enumerated in the ICD-O excluding superficial, squamous and basal cell carcinomas of the skin. "Patient" means any individual who is ill, or undergoing diagnosis or treatment for disease by a dentist, medical laboratory, physician or hospital. "Person" means an individual, association, partnership, corporation, or governmental entity. "State board" means the Indiana state board of health. (Indiana State Department of Health; 410 IAC 21-1-1; filed Nov 7, 1986, 3:30 pm: 10 IR 420; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 21-1-2 General requirements Authority: IC 16-38-2-10 Affected: IC 5-15-5.1-5; IC 16-38-2

Sec. 2. (a) All physicians, dentists, hospitals and medical laboratories shall report all confirmed cases of cancer occurring in Indiana residents who have been diagnosed or treated in Indiana, to the state board cancer registry. (b) Any health care provider reporting to a public or private cancer registry on September 1, 1985 shall make available to the state cancer registry, all data as required under 410 IAC 21-1-3 (hospitals) or 410 IAC 21-1-4 (physicians, dentists and medical laboratories) upon the effective date of 410 IAC 21-1. (c) The state board shall assure state cancer registry computer compatibility for any health care provider who on or before the effective date of 410 IAC 21-1 elects to transmit the required data by way of a computerized mechanism. (d) Any health care provider who, after the effective date of 410 IAC 21-1, establishes a computerized mechanism for the purpose of transmitting abstracted data sets via computer link up, tape transfer, or direct interface, shall be responsible for assuring system compatibility with the state board cancer registry. (e) Any health care provider who elects to transfer abstracted data sets to the state cancer registry in paper form, shall utilize an abstract form designed or approved by the state board pursuant to IC 5-15-5.1-5. (f) All manually prepared data sets shall be mailed or delivered by the health care provider to the state cancer registry. (g) All health care providers not reporting to a public or private cancer registry on September 1, 1985, shall begin submitting data on cases diagnosed on or after January 1, 1987 to the state cancer registry as set out in 410 IAC 21-1-3 (hospitals) or 410 IAC

Indiana Administrative Code Page 1 REPORTING

21-1-4 (physicians, dentists and medical laboratories), no later than six (6) months following the date of such diagnosis. (h) Reports of confirmed cases of malignant disease shall be submitted to the state cancer registry within six (6) months following a confirmed diagnosis. (Indiana State Department of Health; 410 IAC 21-1-2; filed Nov 7, 1986, 3:30 pm: 10 IR 420; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

410 IAC 21-1-3 Hospitals Authority: IC 16-38-2-10 Affected: IC 16-38-2

Sec. 3. (a) All hospitals shall submit abstracted data sets to the state board cancer registry which shall include but not be limited to the following data items: (1) site code (2) accession number (3) sequence number (4) accession year (5) social security number (6) medical record number (7) full name (including maiden name) (8) home address, city, county, state and zip code (9) phone number (10) date of birth (11) sex (12) race (13) class of case (14) admission date (15) follow-up physician (16) discharge date (17) date of initial diagnosis (18) topography code (19) paired organ involvement (20) histology code (21) tumor grade (22) diagnostic confirmation (23) tumor size (largest dimension) (24) number of positive nodes (25) number of nodes examined (26) sites of distant metastasis (27) general summary stage (28) TNM stage (29) AJCC stage group (30) TNM staging basis (31) date and method of first course of treatment (32) subsequent therapies/treatments (dates and methods) (b) Available updated information regarding all elements enumerated in 410 IAC 21-1-3(a) shall be reported to the state board cancer registry each twelve (12) month period following the initial reporting of the disease. (Indiana State Department of Health; 410 IAC 21-1-3; filed Nov 7, 1986, 3:30 pm: 10 IR 421; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR- 410130346RFA)

Indiana Administrative Code Page 2 REPORTING

410 IAC 21-1-4 Physicians, dentists and medical laboratories Authority: IC 16-38-2-10 Affected: IC 16-38-2

Sec. 4. (a) Any physician, dentist or medical laboratory who diagnoses a case of malignant disease when such case is not referred to a hospital for further diagnosis or treatment, shall submit required data sets to the state cancer registry. Such data sets shall include but not be limited to the following available data items: (1) patient's full name (including maiden name) (2) patient's address (including city, county, state and zip code) (3) social security number (4) date of birth (5) sex (6) race (7) date of diagnosis (8) topography (9) morphology (10) diagnostic confirmation (11) hospital referred to (12) physician, dentist or laboratory license number (13) physician, dentist or laboratory name, address and phone number (b) Physicians, dentists and medical laboratories whose offices are located within the confines of a hospital or, who are employed or contracted by a hospital and who diagnose or treat patients for malignant disease, shall not be required to report cases of malignant disease under 410 IAC 21-1-4. Such cases shall be reported in accordance with 410 IAC 21-1-3. (Indiana State Department of Health; 410 IAC 21-1-4; filed Nov 7, 1986, 3:30 pm: 10 IR 421; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009- IR-410130346RFA)

410 IAC 21-1-5 Security and confidentiality of data Authority: IC 16-38-2-10 Affected: IC 5-14-3-10; IC 16-38-2

Sec. 5. (a) The state board shall assure confidentiality of patient record data when entering, retrieving, reviewing and utilizing such data. (b) The state board shall take all precautions and security measures necessary in order to protect the cancer registry data from intrusion or misuse by unauthorized individuals, and to preserve the right to privacy of individual patients maintained on the registry. (c) Pursuant to IC 5-14-3-10, any public employee or official, or any employee or officer of a contractor or subcontractor of a public agency who knowingly or intentionally discloses the identity of a patient maintained on the state cancer registry system to a person not authorized to receive such information, commits a Class A misdemeanor. Any public employee shall be disciplined in accordance with the personnel policies of the agency by which he is employed if he intentionally, knowingly, or recklessly discloses or fails to protect the identity of patients maintained on the state cancer registry system. (d) A person who reports information to the cancer registry system in accordance with 410 IAC 21-1, is immune from any civil or criminal liability that might otherwise be imposed because of release of what is otherwise confidential information. (Indiana State Department of Health; 410 IAC 21-1-5; filed Nov 7, 1986, 3:30 pm: 10 IR 422; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

Indiana Administrative Code Page 3 REPORTING

410 IAC 21-1-6 Cancer registry reports Authority: IC 16-38-2-10 Affected: IC 16-38-2

Sec. 6. (a) The state board shall make available to all hospitals licensed under IC 16-10-1 [IC 16-10 was repealed by P.L.2- 1993, SECTION 209, effective April 30, 1993.], a comprehensive annual report which outlines the trends of malignant disease in Indiana and focuses on specific elements of special study regarding the disease. (b) Hospitals, physicians, dentists, laboratories and other persons may request and be provided with special reports from the state cancer registry, providing the data requested does not disclose the identity of a patient. (Indiana State Department of Health; 410 IAC 21-1-6; filed Nov 7, 1986, 3:30 pm: 10 IR 422; readopted filed Jul 11, 2001, 2:23 p.m.: 24 IR 4234; readopted filed May 22, 2007, 1:44 p.m.: 20070613-IR-410070141RFA; readopted filed Sep 11, 2013, 3:19 p.m.: 20131009-IR-410130346RFA)

Rule 2. State Traumatic Injury Registry (Repealed) (Repealed by Indiana State Department of Health; filed Oct 24, 1996, 4:00 p.m.: 20 IR 752)

Rule 3. Birth Problems Registry

410 IAC 21-3-1 Applicability Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 1. The definitions in this rule apply throughout this rule. (Indiana State Department of Health; 410 IAC 21-3-1; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3757; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-2 "Indiana resident" defined Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 2. "Indiana resident" means an individual whose current address is within the state of Indiana. (Indiana State Department of Health; 410 IAC 21-3-2; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3757; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-3 "Person" defined Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 3. "Person" means an individual, association, partnership, corporation, or government entity. (Indiana State Department of Health; 410 IAC 21-3-3; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3757; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR- 410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-4 "Registry" defined Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 4. "Registry" means the Indiana birth problems registry administered by the Indiana state department of health. (Indiana State Department of Health; 410 IAC 21-3-4; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3757; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

Indiana Administrative Code Page 4 REPORTING

410 IAC 21-3-5 "Severe disability" defined Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 5. "Severe disability" means a severe physical disability or developmental delay that: (1) results from injury, infection, or disease; (2) is chronic in nature; and (3) requires long term health care. (Indiana State Department of Health; 410 IAC 21-3-5; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3758; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-6 "Stillbirth" defined (Repealed)

Sec. 6. (Repealed by Indiana State Department of Health; filed Mar 30, 2005, 3:00 p.m.: 28 IR 2356)

410 IAC 21-3-7 Persons required to report Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 7. The following persons shall report a diagnosed birth problem to the birth problems registry: (1) Hospitals. (2) Birthing centers. (3) Health facilities. (4) Physicians. (5) Psychiatric hospitals. (6) Dentists. (7) Oral surgeons. (8) Registered or licensed practical nurses. (9) Midwives. (10) Optometrists. (11) Podiatrists. (12) Chiropractors. (13) Physical therapists. (14) Psychologists. (15) Local health departments. (16) Health maintenance organizations. (17) Audiologists. (Indiana State Department of Health; 410 IAC 21-3-7; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3758; filed Sep 26, 2006, 10:00 a.m.: 20061025-IR-410050256FRA; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-8 Reporting requirements Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 8. (a) The following shall be reported by a person who must report as required by section 7 of this rule to the registry: (1) Every birth problem, except a pervasive developmental disorder or a fetal alcohol spectrum disorder, listed in section 9 of this rule that: (A) has been diagnosed in a child before that child's third birthday; or

Indiana Administrative Code Page 5 REPORTING

(B) was diagnosed at the time of a child's death up to three (3) years of age. (2) A pervasive developmental disorder or a fetal alcohol spectrum disorder listed in section 9 of this rule that was diagnosed before a child's fifth birthday. (b) Reports to the registry must be made within sixty (60) days of diagnosis. (c) Only diagnoses of birth problems in children who are Indiana residents shall be reported. (d) The registry shall provide the required forms for birth problems reporting. (Indiana State Department of Health; 410 IAC 21-3-8; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3758; filed Mar 30, 2005, 3:00 p.m.: 28 IR 2355; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR-410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

410 IAC 21-3-9 Reportable birth problems Authority: IC 16-38-4-7 Affected: IC 16-38-4

Sec. 9. The following categories along with those conditions identified in the International Classification of Diseases – Ninth Revision, Clinical Modification, 1998 (ICD-9-CM) are birth problems: (1) A structural deformation. (2) A developmental malformation. (3) A genetic, inherited, or biochemical disease. (4) A condition of a chronic nature, including: (A) central nervous system hemorrhage; or (B) infection of the central nervous system; that may result in a need for long term health care. (5) A pervasive developmental disorder. (6) A fetal alcohol spectrum disorder. (7) Any other severe disability that is recognized: (A) in a child after birth; and (B) before the child becomes three (3) years of age. (8) ICD-9-CM Codes Name 155-208 Neoplasms 216-216.9 Neoplasms 230-234 Neoplasms 246.1 Dyshormonogenic goiter 250 Diabetes mellitus 257.8 Other testicular dysfunction 279 Disorders involving the immune mechanism 282 Hereditary hemolytic anemias 284.0 Constitutional aplastic anemia 286.0-286.5 Coagulation defects 287.3 Primary thrombocytopenia 288 Diseases of white blood cells 289.6 Familial polycythemia 299.00-299.99 Pervasive developmental disorders including autism, childhood disintegrative disorder, Asperger's syndrome, Rett syndrome, and pervasive developmental disorders not otherwise specified 330 Cerebral degenerations usually manifest childhood 335 Anterior horn cell disease 359 Muscular dystrophies and myopathies

Indiana Administrative Code Page 6 REPORTING

362.21 Retrolental fibroplasia 362.7 Hereditary retinal dystrophies 365.14 Glaucoma of childhood 378 Strabismus and other disorders of binocular eye movement 379.51 Congenital nystagmus 389.0-389.9 Hearing loss 524.0-524.1 Anomalies of jaw Congenital anomalies 740-742 Central nervous system 743-744 Orofacial 745-747 Cardiovascular 748 Respiratory 749-750.29 Orofacial 750.3-751 Gastrointestinal 752-753 Genitourinary 754-756 Musculoskeletal 757 Integument 758 Chromosome and syndromes 759 Other and unspecified congenital anomalies 760.71 Fetal alcohol syndrome (Indiana State Department of Health; 410 IAC 21-3-9; filed Jul 8, 2002, 1:55 p.m.: 25 IR 3758; filed Mar 30, 2005, 3:00 p.m.: 28 IR 2355; filed Sep 26, 2006, 10:00 a.m.: 20061025-IR-410050256FRA; readopted filed Jul 14, 2008, 2:14 p.m.: 20080806-IR- 410080355RFA; readopted filed Sep 10, 2014, 2:08 p.m.: 20141008-IR-410140299RFA)

Indiana Administrative Code Page 7 Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2015

Participating members of the Birth Defects Definitions Group:

Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents

LIST OF BIRTH DEFECTS ...... I

DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...... 1

FORMAT FOR BIRTH DEFECT DESCRIPTIONS ...... 1 CENTRAL NERVOUS SYSTEM ...... 2

ANENCEPHALY ...... 2 ENCEPHALOCELE ...... 3 HOLOPROSENCEPHALY ...... 4 SPINA BIFIDA WITHOUT ANENCEPHALY ...... 5 EYE...... 7

ANOPHTHALMIA/MICROPHTHALMIA ...... 7 CONGENITAL CATARACT ...... 8 EAR ...... 9

ANOTIA/MICROTIA ...... 9 CARDIOVASCULAR ...... 11

AORTIC VALVE STENOSIS ...... 11 ATRIAL SEPTAL DEFECT (ASD) ...... 12 ATRIOVENTRICULAR SEPTAL DEFECT ...... 13 (ATRIOVENTRICULAR CANAL DEFECT; ENDOCARDIAL CUSHION DEFECT) ...... 13 COARCTATION OF THE AORTA ...... 15 COMMON TRUNCUS (TRUNCUS ARTERIOSUS OR TA)...... 16 DOUBLE OUTLET RIGHT VENTRICLE (DORV) ...... 17 EBSTEIN ANOMALY ...... 18 HYPOPLASTIC LEFT HEART SYNDROME (HLHS) ...... 19 INTERRUPTED AORTIC ARCH (IAA) ...... 20 PULMONARY VALVE ATRESIA AND STENOSIS ...... 21 SINGLE VENTRICLE ...... 23 TETRALOGY OF FALLOT (TOF) ...... 24 TOTAL ANOMALOUS PULMONARY VENOUS CONNECTION (TAPVC) ...... 26 TRANSPOSITION OF THE GREAT ARTERIES (TGA) ...... 27 TRICUSPID VALVE ATRESIA AND STENOSIS ...... 29 VENTRICULAR SEPTAL DEFECT (VSD) ...... 30 OROFACIAL ...... 31

CHOANAL ATRESIA ...... 31 CLEFT LIP ALONE (WITHOUT CLEFT PALATE) ...... 32 CLEFT LIP WITH CLEFT PALATE ...... 33 CLEFT PALATE ALONE (WITHOUT CLEFT LIP) ...... 34 GASTROINTESTINAL ...... 35

BILIARY ATRESIA ...... 35 ESOPHAGEAL ATRESIA/TRACHEOESOPHAGEAL FISTULA ...... 36 RECTAL AND LARGE INTESTINAL ATRESIA/STENOSIS ...... 37 SMALL INTESTINAL ATRESIA/STENOSIS ...... 38

i Appendix 3.1 Case Definition GENITOURINARY ...... 39

BLADDER EXSTROPHY ...... 39 CLOACAL EXSTROPHY ...... 41 CONGENITAL POSTERIOR URETHRAL VALVES ...... 42 HYPOSPADIAS ...... 43 RENAL AGENESIS/HYPOPLASIA...... 45 MUSCULOSKELETAL ...... 47

CLUBFOOT ...... 47 CRANIOSYNOSTOSIS ...... 48 DIAPHRAGMATIC HERNIA ...... 49 GASTROSCHISIS ...... 50 LIMB DEFICIENCIES (REDUCTION DEFECTS) ...... 52 OMPHALOCELE ...... 55 CHROMOSOMAL ...... 57

DELETION 22Q11.2 ...... 57 TRISOMY 13 ...... 59 TRISOMY 18 ...... 61 TRISOMY 21 (DOWN SYNDROME) ...... 63 TURNER SYNDROME ...... 65

ii Appendix 3.1 Case Definition Note: As of January 2014, the following conditions were dropped from the NBDPN list:  Amniotic bands  Aniridia  Congenital hip dislocation  Epispadias  Fetus or newborn affected by maternal alcohol use  Hirschsprung disease (congenital megacolon)  Hydrocephalus without spina bifida  Microcephalus  Patent ductus arteriosus  Pyloric stenosis

The following conditions were added:  Clubfoot  Cloacal exstrophy  Congenital posterior urethral valves  Craniosynostosis  Deletion 22q11.2  Double outlet right ventricle (DORV)  Holoprosencephaly  Interrupted aortic arch (IAA)  Single ventricle  Small intestine atresia/stenosis  Turner syndrome

The following conditions were merged:  Reduction deformity, lower limbs; reduction deformity, upper limbs. Merged to limb deficiencies (reduction defects).

The following conditions were separated:  Cleft lip with and without cleft palate separated to cleft lip with cleft palate; cleft lip alone (without cleft palate).

iii Appendix 3.1 Case Definition List of Birth Defects

Standard Level* Birth Defects ICD-9-CM Codes CDC/BPA Codes ICD-10-CM Codes Core Recommended Extended CNS

Anencephalus 740.0 – 740.1 740.00 – 740.10 Q00.0 - Q00.1 Core Spina bifida without 741.0, 741.9 w/o 741.00 – 741.99 Q05.0 - Q05.9, Core

anencephalus 740.0 - 740.10 w/o 740.0 – Q07.01, Q07.03 w/o 740.10 Q00.0 - Q00.1

Encephalocele 742.0 742.00 – 742.09 Q01.0 – Q01.9 Recommended

Holoprosencephaly 742.2 742.26 Q04.2 Extended Eye Anophthalmia / 743.0, 743.1 743.00 – 743.10 Q11.0 – Q11.2 Recommended

microphthalmia

Congenital cataract 743.30 – 743.34 743.32 Q12.0 Extended

Ear

Anotia/microtia 744.01, 744.23 744.01, 744.21 Q16.0, Q17.2 Recommended Cardiovascular

Aortic valve stenosis 746.3 746.3 Q23.0 Recommended

Atrial septal defect 745.5 745.51 – 745.59 Q21.1 Recommended Atrioventricular septal 745.60, .61, .69 745.60 – 745.69 Q21.2 Core defect (Endocardial

cushion defect) Coarctation of the aorta2 747.1 747.10 – 747.19 Q25.1 Recommended

i Appendix 3.1 Case Definition Birth Defects ICD-9-CM Codes CDC/BPA Codes ICD-10-CM Codes Standard Level* Common truncus (truncus 745.0 745 Q20.0 Core arteriosus or TA)1

Double outlet right 745.11 745.13 – 745.15 Q20.1 Recommended ventricle (DORV)2 Ebstein anomaly2 746.2 746.20 Q22.5 Recommended

Hypoplastic left heart 746.7 746.7 Q23.4 Core syndrome1

Interrupted aortic arch 747.11 747.215 - Q25.2, Q25.4 Recommended (IAA)2 747.217, 747.285 Pulmonary valve atresia 746.01 746.00 Q22.0, Q22.1 (Note: Recommended and stenosis1 (pulmonary valve (pulmonary valve for CCHD, Q22.0 only atresia), 746.02 atresia), 746.01 (pulmonary atresia, (pulmonary valve (pulmonary valve intact ventricular stenosis) Note: for stenosis) Note: for septum)) CCHD, 746.01 only CCHD, 746.00 only (pulmonary (pulmonary atresia, intact atresia, intact ventricular ventricular septum) septum) Single Ventricle2 745.3 745.3 Q20.4 Recommended Tetralogy of Fallot (TOF)1 745.2 745.20 – 745.21, Q21.3 Core 747.31 Note: code 746.84 has been removed)

ii Appendix 3.1 Case Definition Birth Defects ICD-9-CM Codes CDC/BPA Codes ICD-10-CM Codes Standard Level* Total anomalous 747.41 747.42 Q26.2 Core pulmonary venous connection (TAPVC)1 Transposition of the great 745.10, 745.12, 745.10 – 745.12, Q20.3, Q20.5 (Note: Core arteries (TGA)1 745.19 (Note: for 745.18 – 745.19 for CCHD, Q20.3 CCHD, 745.10 only (Note: for CCHD, only) (d-TGA only)) 745.10 (TGA complete, no VSD), 745.11 (TGA incomplete, with VSD), 749/18 (other specified TGA), 745.19 (unspecified TGA) Tricuspid valve atresia and 746.1 746.100 (tricuspid Q22.4 Recommended stenosis2 atresia), 746.106 (tricuspid stenosis) (excl. 746.105 – tricuspid insufficiency) Note: for CCHD, 746.100 only. Only tricuspid atresia is a CCHD. Many cases of tricuspid stenosis are not critical.

Ventricular septal defect 745.4 745.40 – 745.49 Q21.0 Recommended (excl. 745.487, 745.498) Orofacial

iii Appendix 3.1 Case Definition Birth Defects ICD-9-CM Codes CDC/BPA Codes ICD-10-CM Codes Standard Level*

Choanal atresia 748.0 748.0 Q30.0 Recommended

Cleft lip with cleft palate 749.2 749.20 – 749.29 Q37.0 – Q37.9 Core Cleft lip alone (without 749.1 749.10-749.19 Q36.0 – Q36.9 Core

cleft palate) Cleft palate alone (without 749.0 749.00 – 749.09 Q35.1 – Q35.9 Core

cleft lip) Gastrointestinal

Biliary atresia 751.61 751.65 Q44.2 - Q44.3 Extended Esophageal 750.3 750.30 – 750.35 Q39.0 – Q39.4 Recommended atresia/tracheoesophageal

fistula Rectal and large intestinal 751.2 751.20 – 751.24 Q42.0 – Q42.9 Recommended

atresia/stenosis Small intestinal 751.1 751.10-751.19 Q41.0 – Q41.9 Recommended

atresia/stenosis Genitourinary

Bladder exstrophy 753.5 753.5 Q64.10, Q64.19 Recommended

Cloacal exstrophy 751.5 751.555 Q64.12 Recommended Congenital Posterior 753.6 753.60 Q64.2 Recommended Urethral Valves

Hypospadias 752.61 752.60 – 752.62 Q54.0 – Q54.9 Recommended (excluding 752.61 (excluding Q54.4) and 752.621)

Renal agenesis/hypoplasia 753.0 753.00 – 753.01 Q60.0 – Q60.6 Recommended

Musculoskeletal

Clubfoot 754.51, 754.70 754.50, 754.73 Q66.0, Q66.89 Recommended

Craniosynostosis No specific code 756.00-756.03 Q75.0 Extended

Diaphragmatic hernia 756.6 756.61 Q79.0, Q79.1 Recommended

iv Appendix 3.1 Case Definition Birth Defects ICD-9-CM Codes CDC/BPA Codes ICD-10-CM Codes Standard Level*

Gastroschisis 756.73 (as of 756.71 Q79.3 Core 10/1/09; previously a shared code 756.79 with omphalocele)

Limb deficiencies 755.2 – 755.4 755.20 – 755.49 Q71.0 – Q71.9, Core

(reduction defects) Q72.0 – Q72.9, Q73.0 – Q73.8

Omphalocele 756.72 (as of 756.7 Q79.2 Recommended 10/1/09; previously a shared code 756.79 with gastroschisis) Chromosomal

Deletion 22 q11 758.32 758.37 Q93.81 Extended

Trisomy 13 758.1 758.10 – 758.19 Q91.4 – Q91.7 Recommended

Trisomy 18 758.2 758.20 – 758.29 Q91.0 – Q91.3 Recommended Trisomy 21 (Down 758.0 758.00 – 758.09 Q90.0 – Q90.9 Core

syndrome)

Turner syndrome 758.6 758.60-758.69 Q96.0-.9 Extended 1Critical Congenital Heart Defect (CCHD) primary target 2Critical Congenital Heart Defect (CCHD) secondary target

v Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Detailed Descriptions of Birth Defects

Format for Birth Defect Descriptions

Defect Name Description Description of the defect.

Standard level (SL): Each condition is listed as core (SL 1), recommended (SL 2) or extended (SL 3). In order to meet the standard level specified, a program needs to ascertain that condition.

Inclusions Other names or conditions that should be included in the code for the defect.

Exclusions Other names or conditions that should not be included in the code for the defect.

ICD-9-CM Codes Applicable ICD-9-CM codes for the defect.

ICD-10-CM Codes Applicable ICD-10-CM codes for the defect.

CDC/BPA Codes Applicable CDC/BPA codes for the defect.

Diagnostic Methods Postnatal procedures by which the defect may be accurately and reliably diagnosed.

Prenatal Diagnoses Not Confirmed Guidance on whether cases with only a prenatal diagnosis Postnatally should be included in the defect code.

Additional Information Tips and useful information about the defect.

1 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Central Nervous System Anencephaly (Core Condition)

Description Partial or complete absence of the brain and skull.

Inclusions Acrania – Absence of skull bones with some brain tissue present. Absent brain, with or without skull bones present. Anencephaly Anencephaly Craniorachischisis – Anencephaly continuous with an open posterior spinal defect with no meninges covering the neural tissue. Exencephaly

Exclusions Encephalocele Iniencephaly Rachischisis – When used alone, this term refers only to the spinal defect and should be coded as spina bifida without anencephaly.

ICD-9-CM Codes 740.0 – 740.1

ICD-10-CM Codes Q00.0 - Q00.1

CDC/BPA Codes 740.00 – 740.10

Diagnostic Methods Anencephaly is easily recognized on physical examination at delivery.

Prenatal Diagnoses Not Anencephaly may be included when only diagnosed prenatally. However, if Confirmed Postnatally it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data.

Additional Information: Anencephaly is one of a group of defects that result from failure of the neural tube to close.

Maternal serum alphafetoprotein (MSAFP) and/or amniotic fluid alphafetoprotein (AFAFP) and amniotic fluid acetylcholinesterase (ACHE) may be elevated with anencephaly. However, these screening tests alone are not sufficient to diagnose the condition.

In cases where both anencephaly and spina bifida are present but are not continuous (i.e., not craniorachischisis), both anencephaly and spina bifida should be coded.

2 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Encephalocele (Recommended Condition) Description Herniation of brain tissue and/or meninges through a defect in the skull. The hernia sac is usually covered by skin.

Inclusions Cephalocele Cranial meningocele – Herniation of meninges only. Encephalocele Encephalomyelocele • Herniation through a defect in a portion of both the skull and the upper spine.

Encephalocystomeningocele Hydranencephalocele Meningoencephalocele Ventriculocele

Exclusions NA

ICD-9-CM Codes 742.0

ICD-10-CM Codes Q01.0 – Q01.9

CDC/BPA Codes 742.00 – 742.09

Diagnostic Methods Most cases of encephalocele are recognizable on physical examination after delivery. However, they may be conclusively diagnosed only through direct visualization of the brain by cranial ultrasound, CT or MRI scan, surgery, or autopsy. This is particularly true for internal herniations through the sphenoid, maxillary, or ethmoid bones, the orbit, or pharynx.

Prenatal Diagnoses Not Encephalocele may be included when only diagnosed prenatally. However, Confirmed Postnatally if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. In addition, the absence of a small encephalocele on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Encephaloceles are often included as one of a group of defects that result from failure of the neural tube to close. Maternal serum alphafetoprotein (MSAFP) and/or amniotic fluid alphafetoprotein (AFAFP) and amniotic fluid acetylcholinesterase (ACHE) may be elevated with encephaloceles. However, these screening tests alone are not sufficient to diagnose the condition. Occipital encephalocele is a component of Meckel-Gruber syndrome.

3 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Holoprosencephaly (Extended Condition) Description Structural brain anomaly that results from variable degrees of incomplete cleavage of the prosencephalon (embryonic forebrain), which fails to cleave sagittally into the right and left cerebral hemispheres and transversely into telencephalon and diencephalon.

Inclusions Alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, middle interhemispheric variant (MIHV), holotelencephaly, cyclopia, cebocephaly, ethmocephaly.

Exclusions Aprosencephaly, atelencephaly, hydranencephaly, porencephaly, arhinencephaly without holoprosencephaly

ICD-9-CM Codes 742.2

ICD-10-CM Codes Q04.2

CDC/BPA Codes 742.26

Diagnostic Methods Confirmation of a diagnosis of holoprosencephaly is by CT, MRI, or autopsy.

Prenatal Diagnoses Not Holoprosencephaly may be included when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. For example, clear diagnoses of cyclopia, ethmocephaly, or cebocephaly are virtually always associated with holoprosencephaly, but prenatal diagnoses of lobar holoprosencephaly and middle interhemispheric variants are more problematic without postnatal imaging or autopsy confirmation.

Additional Information: Holoprosencephaly, especially the alobar type, is commonly associated with facial anomalies that range from hypotelorism and median cleft lip (premaxillary agenesis) to cyclopia, a rare abnormality characterized by a single central eye in the low frontal area and a missing nose or a proboscis (a tubular- shaped nose) located above the eye. Other similarly uncommon facial anomalies include ethmocephaly, in which a proboscis is found close to the root of the nose, and cebocephaly, characterized by a small nose with a single nostril situated below underdeveloped eyes.

4 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Spina Bifida without Anencephaly (Core Condition) Description Incomplete closure of the vertebral spine (usually posteriorly) through which spinal cord tissue and/or the membranes covering the spine (meninges) herniate.

Inclusions Lipomeningocele Lipomyelomeningocele Meningocele – Herniation of meninges only. Meningomyelocele, Myelomeningocele – Herniation of meninges and spinal cord tissue Myelocystocele Myelodysplasia Myeloschisis Open spina bifida Rachischisis – Open spina bifida without meninges covering the spinal cord tissue Spina bifida aperta Spina bifida cystica

Exclusions Diastematomyelia Diplomyelia Hydromyelia Spina bifida with coexisting anencephaly – Code only as anencephaly Spina bifida occulta Syringomyelia Tethered spinal cord

ICD-9-CM Codes 741.0 or 741.9 without 740.0 – 740.1

ICD-10-CM Codes Q05.0 - Q05.9 or Q07.01 or Q07.03 without Q00.0 - Q00.1

CDC/BPA Codes 741.00 – 741.99 without 740.00 – 740.10

Diagnostic Methods The majority of defects result in a direct opening on the infant’s back that is easily recognized on physical examination at delivery. However, the exact nature of the defect (meningocele vs. myelomeningocele) may only be distinguished by CT or MRI scan, at surgery, or at autopsy.

Prenatal Diagnoses Not Spina bifida may be included when only diagnosed prenatally. However, if Confirmed Postnatally it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. In addition, the absence of spina bifida on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

5 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Additional Information: Spina bifida is one of a group of defects that result from failure of the neural tube to close.

Open lesions (spina bifida cystica, spina bifida aperta) are those with no covering or with only meninges covering the neural tissue. They usually leak cerebrospinal fluid. Closed lesions are covered by normal skin.

Hydrocephalus and Arnold-Chiari malformation of the brain frequently, though not always, result from spina bifida. When present, there is no need to code them separately from the spina bifida.

Maternal serum alphafetoprotein (MSAFP) and/or amniotic fluid alphafetoprotein (AFAFP) and amniotic fluid acetylcholinesterase (ACHE) may be elevated in spina bifida. However, these screening tests alone are not sufficient to diagnose the condition.

In cases where both anencephaly and spina bifida are present but are not continuous (i.e., not craniorachischisis), both anencephaly and spina bifida should be coded.

If the defect coding system includes unique codes for different levels of spina bifida (cervical; thoracic; lumbar; sacral) and a defect involves more than one level (cervicothoracic; thoracolumbar; lumbosacral), the highest level at which it occurs should be coded (i.e., cervical; thoracic; lumbar). The highest level of involvement determines the degree of associated neurologic impairment.

6 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Eye Anophthalmia/Microphthalmia (Recommended Condition) Description Anophthalmia – Total absence of eye tissue or apparent absence of the globe in an otherwise normal orbit.

Microphthalmia – Reduced volume of the eye. The corneal diameter is usually less than 10 millimeters, or the anteroposterior globe diameter is less than 20 millimeters.

Inclusions Anophthalmia Microphthalmia Nanophthalmia – Microphthalmia with normal internal eye (intraocular) structures. This is a distinct genetic condition.

Exclusions Small eyes or small palpebral fissures for which the diagnosis of microphthalmia or anophthalmia has not been made.

Microcornea with otherwise normal eye size.

ICD-9-CM Codes 743.0, 743.1

ICD-10-CM Codes Q11.0 – Q11.2

CDC/BPA Codes 743.00 – 743.10

Diagnostic Methods These conditions are usually recognized on physical examination after delivery, especially by an ophthalmologist. However, the anteroposterior diameter of the globe may be measured only by ultrasound, CT or MRI scan, or at autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation. In addition, the absence of anophthalmia or microphthalmia on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Microphthalmia may occur in association with colobomas (gaps) in the uvea, iris, choroid and/or optic nerve (colobomatous microphthalmia).

Anophthalmia and microphthalmia often are accompanied by malformations of the brain and face, and frequently are components of genetic syndromes.

7 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Congenital Cataract (Extended Condition) Description An opacity of the lens of the eye that has its origin prenatally.

Inclusions Anterior polar cataract Cataract, type not specified Infantile cataract Lamellar cataract Nuclear cataract Posterior lentiglobus/lenticonus cataract Posterior cortical cataract Sectoral cataract Zonular cataract

Exclusions Any of the above types of cataract that has its origin after birth Corneal opacities

ICD-9-CM Codes 743.30 – 743.34

ICD-10-CM Codes Q12.0

CDC/BPA Codes 743.32

Diagnostic Methods Some cataracts are readily apparent on physical examination. Others are visible with an ophthalmoscope. However, they may be conclusively diagnosed only through examination by an ophthalmologist.

Prenatal Diagnoses Not While this condition may be identified by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of a cataract on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Cataracts may be congenital, acquired, or inherited. They may involve all or only part of the lens of either or both eyes. They may be an isolated finding in an otherwise normal eye, or may be part of a more general eye malformation. They may be seen with metabolic disorders, such as galactosemia; genetic syndromes, such as chondrodysplasia punctata; chromosomal abnormalities, such as Trisomy 21; intrauterine infection, such as congenital rubella; or trauma.

In some instances, the severity of the cataract progresses over time. The need for surgical treatment depends on the degree of visual impairment.

When congenital cataract occurs with microphthalmia in the same infant, both conditions should be coded.

8 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Ear Anotia/Microtia (Recommended Condition) Description Anotia – Total absence of the external ear and canal. Microtia – Malformation or hypoplasia of the external ear (auricle, pinna).

Microtia – 1st degree Microtia – 2nd degree Microtia – 3rd degree Anotia

Inclusions Anotia Microtia

Exclusions Small ears that retain most of the overall structure of the normal auricle, including lop or cup ear defects. In these, the auditory meatus is usually patent and defects of the ossicular chain of the middle ear are infrequent. However, these defects are sometimes designated as Type I Microtia.

Isolated absence, atresia, stenosis or malformation of the ear canal with a normal external ear.

Congenital absence of the ear not diagnosed as anotia or microtia.

ICD-9-CM Codes 744.01, 744.23

ICD-10-CM Codes Q16.0, Q17.2

CDC/BPA Codes 744.01, 744.21

Diagnostic Methods Anotia and microtia are usually easily recognized on physical examination after delivery. However, abnormalities of the middle and inner ear may be conclusively diagnosed only by CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation. In addition, the absence of anotia or microtia on prenatal ultrasound does not necessarily mean that they will not be diagnosed after delivery.

Additional Information: The spectrum of severity of microtia may range from a measurably small external ear with minimal structural abnormality to major structural alteration of the external ear with an absent or blind-ending canal. Following is the classification system of Meurman (modified from Marks):

Type I B – Generally small ears that retain most of the overall structure of the normal auricle. These 9 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 should not be coded as microtia.

Type II B – A moderately severe anomaly with a longitudinal mass of cartilage with some resemblance to a pinna. The rudimentary auricle may be hook-shaped, have an S-shape, or the appearance of a question mark.

Type III B – The ear is a rudiment of soft tissue and the auricle has no resemblance to a normal pinna.

Type IV B – Complete absence of all external ear structures (anotia).

Abnormalities that may be associated with anotia/microtia include anomalies of the middle and/or inner ear, the mandible and face, and hearing loss.

Anotia/microtia may be a component of Goldenhar and other syndromes.

10 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Cardiovascular Aortic Valve Stenosis (Recommended Condition) Description Obstruction or narrowing of the aortic valve, which may impair blood flow from the left ventricle to the aorta.

Inclusions Stenosis of the aortic valve

Exclusions Stenosis of the aorta without mention of the aortic valve. Supra-valvular or sub-valvular aortic stenosis.

ICD-9-CM Codes 746.3

ICD-10-CM Codes Q23.0

CDC/BPA Codes 746.30

Diagnostic Methods While aortic valve stenosis may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While this condition may be identified by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of aortic valve stenosis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information NA

11 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Atrial Septal Defect (ASD) (Recommended Condition) Description An opening in the wall (septum) that separates the left and right top chambers (atria) of the heart.

Inclusions Atrial septal defect (ASD), type not specified (NOS) ASD other specified (OS) – which includes sinus venosus type ASD secundum type (ASD 2 or ASD II)

ASD vs. PFO – In the first days of life, it may not be possible to distinguish whether the opening in the atrial septum is a true ASD or a patent foramen ovale that has not yet closed (see below). ASD vs. PFO should be included only if the exact nature of the condition was never resolved.

Exclusions Atrioventricular septal defects (AVSD) ASD primum type (1° ASD) – This is included under atrioventricular septal defects (see below). Patent foramen ovale (PFO) – A PFO is normal in utero to allow blood to flow properly during fetal circulation. This usually closes shortly after birth, but frequently does not close until 24 to 48 hours after birth.

ICD-9-CM Codes 745.5

ICD-10-CM Codes Q21.1

CDC/BPA Codes 745.51 – 745.59

Diagnostic Methods Some isolated ASDs may be diagnosed based on physical examination and/or EKG without direct imaging of the heart. However, many ASDs may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While ASDs may be identified by prenatal ultrasound, they may close Confirmed Postnatally spontaneously before delivery. For this reason, ASDs that are diagnosed prenatally should not be included unless they have been confirmed postnatally. In addition, the absence of an ASD on prenatal ultrasound does not necessarily mean that an ASD will not be diagnosed after delivery, as it is not always possible to accurately visualize the entire atrial septum by prenatal ultrasound.

Additional Information: Types of ASDs are denoted by location on the septum and when they formed in utero. Secundum ASDs are usually located toward the middle of the atrial septum. Some close spontaneously without treatment. Primum ASDs are located in the lower portion of the atrial septum near the atrioventricular valves, are etiologically related to atrioventricular septal defects, and never close spontaneously.

12 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Atrioventricular Septal Defect (Atrioventricular Canal Defect; Endocardial Cushion Defect) (Core Condition) Description A defect in both the lower portion of the atrial septum and the upper portion of the ventricular septum. In extreme cases, virtually the entire atrial and ventricular septae may be missing. The valves controlling blood flow from the atria to the ventricles, the tricuspid and mitral valves may also be abnormal. They may not form from the endocardial cushions during cardiac development into two separate valves, and thus be a single common atrioventricular valve. Together, these defects producing a large opening (canal) in the central part of the heart.

Inclusions Atrioventricular septal defect (AVSD) Common or complete atrioventricular (AV) canal Endocardial cushion defect

Primum type atrial septal defect (1° ASD) – A defect only in the lower portion of the atrial septum. While this does not involve a defect in the upper portion of the ventricular septum, it is etiologically related to the more complete form of AVSD. A cleft mitral valve is often present with a primum type ASD (see partial AVC).

Common atrium – Near absence of the atrial septum. Partial AV canal (partial endocardial cushion defect) – Refers to a primum ASD with cleft mitral valve.

Inflow-type, subtricuspid, or canal-type ventricular septal defect (VSDAVC) – A defect in the upper (inflow) portion of the ventricular septum. While this does not also involve a defect in the lower portion of the atrial septum, it is etiologically related to the more complete form.

Exclusions Secundum ASDs that coexist with a VSD. In this instance, both the ASD and the VSD should be coded.

ICD-9-CM Codes 745.60, 745.61, 745.69

ICD-10-CM Codes Q21.2

CDC/BPA Codes 745.60 – 745.69, 745.487

Diagnostic Methods While atrioventricular septal defects may be suspected by clinical presentation, examination, and EKG changes, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included as cases when only diagnosed prenatally. 13 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data, as it may be difficult to distinguish this condition from other abnormalities of the cardiac septae prenatally. Live-born children who survive should always have confirmation of the defect postnatally.

Additional Information: Atrioventricular septal defects are known to be associated with Down syndrome. Approximately 40% of children with Down syndrome have some type of CHD, 20% have an atrioventricular septal defect. Conversely, approximately 70% of children with an atrioventricular septal defect have Down syndrome.

14 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Coarctation of the Aorta (Recommended Condition) Description Narrowing of the descending aorta, which may obstruct blood flow from the heart to the rest of the body. The most common site of coarctation occurs distal to the origin of the left subclavian artery in the region of the ductus arteriosus. If there is complete loss of communication in this location, it is a form of interruption of the aorta (Type A).

Inclusions Coarctation of the aorta, type not specified Preductal, juxtaductal, and postductal coarctations – These terms refer to the exact placement of the segment of coarctation relative to the insertion of the ductus arteriosus.

Exclusions NA

ICD-9-CM Codes 747.10

ICD-10-CM Codes Q25.1

CDC/BPA Codes 747.10 – 747.19

Diagnostic Methods While coarctation of the aorta may be suspected by clinical presentation and examination, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While this condition may be identified by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of coarctation of the aorta on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Left-sided obstructive lesions of the heart, such as coarctation, have been associated with Turner syndrome (karyotype 45,X and other variants).

15 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Common Truncus (Truncus Arteriosus or TA) (Core Condition) Description Failure of separation of the aorta and the pulmonary artery during development, resulting in a single common arterial trunk carrying blood from the heart to both the body and lungs.

Inclusions Common truncus Truncus arteriosus (TA) Persistent truncus arteriosus

Exclusions Aorto-pulmonary window. In ICD-9-CM, this related defect is not distinguished from truncus. An AP window is a hole (aka “window”) between a separate aorta and pulmonary artery. This is distinct from truncus, when neither vessel forms separately.

ICD-9-CM Codes 745.0

ICD-10-CM Codes Q20.0

CDC/BPA Codes 745.00 only (excluding 745.01, aortic septal defect which including aorto- pulmonary window)

Diagnostic Methods Truncus arteriosus is conclusively diagnosed only through direct visualization of the heart by cardiac imaging (typically echocardiography but also MRI), catheterization, surgery, or autopsy. A clinical diagnosis is considered insufficient to make the diagnosis.

Prenatal Diagnoses Not These conditions may be included as cases when only diagnosed prenatally Confirmed Postnatally by a pediatric cardiologist through fetal echocardiography. However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally.

Additional Information: A ventricular septal defect is often present in association with truncus defects and should be coded separately. Truncus arteriosus is one of several abnormalities of the outflow tract of the heart known as conotruncal defects. Some infants (1 in 5 to 1 in 3) with these defects have a deletion on the short arm of chromosome 22 (deletion 22q11.2). This deletion may not necessarily be detected on a routine karyotype analysis and is more reliably diagnosed by fluorescent in situ hybridization (FISH) or microarray technology.

16 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Double Outlet Right Ventricle (DORV) (Recommended Condition) Description Both the pulmonary artery and the aorta arise from the right ventricle, usually accompanied by a ventricular septal defect (VSD). DORV subtypes are usually distinguished by the great artery anatomic relationship: DORV with normally related great arteries and DORV with “transposed” or malposed or side-by-side great arteries. Actually, the arteries are not truly “transposed”, which refers to the aorta arising from the right ventricle and pulmonary artery from the left ventricle, since in DORV both great arteries arise from the right ventricle.

Inclusions Double outlet right ventricle (DORV) with normally related great vessels DORV with transposed great vessels DORV with unknown relationship of great vessels Taussig-Bing syndrome –

If a case has separate codes for DORV and TGA, include case in the DORV category only and not in the TGA category.

Exclusions NA

ICD-9-CM Codes 745.11

ICD-10-CM Codes Q20.1

CDC/BPA Codes 745.13 -745.15

Diagnostic Methods DORV is conclusively diagnosed through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included as cases when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally.

Additional Information: Distinction of types of DORV is often done on the basis of the anatomic relationship of the great arteries/vessels, which can be malposed, side-by-side, normal or undetermined. However, the coding systems are somewhat confusing in representing these anatomic distinctions. In ICD-9-CM, the single code for DORV is contained under the broader category of Transposition of Great Arteries (TGA). Actually, the arteries are not truly “transposed”, which refers to the aorta arising from the right ventricle and pulmonary artery from the left ventricle, since in DORV both great arteries arise from the right ventricle, regardless of how they are related positionally. In ICD-10-CM, there also is no distinction for great artery relationship, but the single code for DORV is no longer a subtype under TGA. In the latest version of modified CDC/BPA codes there are separate DORV codes depended on knowledge of the great artery relationship.

Previously, for surveillance guidelines, all DORV was included in the TGA category, following the coding system structure. However, now there is a new separate category for all types of DORV.

17 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Ebstein Anomaly (Recommended Condition) Description Abnormal formation and downward displacement of the tricuspid valve into the right ventricle. The tricuspid valve is usually hypoplastic and regurgitant. As a result, the right atrium is enlarged and the right ventricle is small. There may also be associated pulmonary stenosis as the abnormal tricuspid valve tissue obstructs blood flow out of the pulmonary valve.

Inclusions Ebstein’s anomaly Ebstein malformation

Exclusions NA

ICD-9-CM Codes 746.2

ICD-10-CM Codes Q22.5

CDC/BPA Codes 746.20

Diagnostic Methods While Ebstein’s anomaly may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While this condition may be identified by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of Ebstein’s anomaly on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Ebstein’s anomaly has been associated with lithium exposure during gestation. However, the magnitude of this association is probably very small.

18 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Hypoplastic Left Heart Syndrome (HLHS) (Core Condition) Description A condition in which the structures on the left side of the heart and the aorta are extremely small, insufficient to support systemic circulation and with normally related great arteries. Classically, this condition includes hypoplasia of the left ventricle, atresia or severe hypoplasia of both the mitral and aortic valves, hypoplasia of the aortic arch, and coarctation of the aorta.

Inclusions Any diagnosis of hypoplastic left heart syndrome, regardless of whether all conditions in the classical definition are present.

Exclusions Hypoplasia or diminished size of the left ventricle alone without involvement of other structures on the left side of the heart or the aorta.

Hypoplastic left heart or small left ventricle that occurs as part of another complex heart defect, such as atrioventricular septal defect.

ICD-9-CM Codes 746.7

ICD-10-CM Codes Q23.4

CDC/BPA Codes 746.70

Diagnostic Methods While hypoplastic left heart may be suspected by clinical presentation, examination, and EKG changes, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included as cases when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data, as it may be difficult to distinguish this condition from other abnormalities of the left ventricle prenatally. Live-born children who survive should always have confirmation of the defect postnatally before being included.

Additional Information NA

19 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 Interrupted Aortic Arch (IAA) (Recommended Condition) Description Complete loss of communication (interruption) between the ascending and descending aorta, usually associated with a malalignment-type ventricular septal defect (VSD). Types of IAA are defined by where the interruption occurs along the arch from the conotruncus to the descending aorta. Type A involves the distal descending aorta distal to the left subclavian artery in the same region as coarctation of the aorta, and is considered an extreme version of that obstructive defect. Type B interruption occurs between the left carotid and subclavian, and is considered a conotruncal heart defect; it is the more common form of interrupted aortic arch.

Inclusions IAA types A, B or C, or all IAA if type unknown or not otherwise specified (NOS).

Exclusions NA

ICD-9-CM Codes 747.11

ICD-10-CM Codes Q25.2, Q25.4

CDC/BPA Codes 747.215 - 747.217, 747.285

Diagnostic Methods IAA is conclusively diagnosed through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Additional Information NA

20 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Pulmonary Valve Atresia and Stenosis (Recommended Condition) Description Pulmonary valve atresia – Lack of patency, or failure of formation altogether, of the pulmonary valve, resulting in obstruction of blood flow from the right ventricle to the pulmonary artery.

Pulmonary valve stenosis – Obstruction or narrowing of the pulmonary valve, which may impair blood flow from the right ventricle to the pulmonary artery.

Inclusions Pulmonary valve atresia with intact ventricular septum Pulmonary valve stenosis (PS) (most cases of PS) Pulmonic stenosis (PS)

Exclusions Atresia or stenosis of the main or branch (right or left) pulmonary arteries, not involving the pulmonary valve. Pulmonary stenosis that occurs as part of Tetralogy or Pentalogy of Fallot. Supra-valvular or sub-valvular pulmonic stenosis.

ICD-9-CM Codes 746.01 (pulmonary valve atresia), 746.02 (pulmonary valve stenosis) For CCHD Screening 746.01 only (pulmonary atresia, intact ventricular septum)

ICD-10-CM Codes Q22.0, Q22.1 For CCHD Screening Q22.0 only (pulmonary atresia, intact ventricular septum)

CDC/BPA Codes 746.00 (pulmonary valve atresia), 746.01 (pulmonary valve stenosis) For CCHD Screening 746.00 only (pulmonary atresia, intact ventricular septum)

Diagnostic Methods While pulmonary valve atresia or stenosis may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation. In addition, the absence of pulmonary valve atresia or stenosis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: These defects have important CCHD ICD-9 CDC/BPA physiological and coding differences PVS 746.02 746.01 among systems as seen here in the PA, IVS 746.01 746.00 Table, which is also discussed in the PA, VSD (TOF) -- 747.31 Tetralogy of Fallot section. TOF 745.2 745.20 - 21 Pulmonary valve atresia or stenosis may occur with or without a coexisting ventricular septal defect. For pulmonary valve atresia without a VSD (intact ventricular septum), the CDC/BPA code 746.00 (“atresia,

21 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 hypoplasia of pulmonary valve”) is used, corresponding to the ICD-9-CM code 746.01. In CDC/BPA, 746.01 refers to pulmonary valve stenosis.

Pulmonary atresia with a VSD is similar to severe forms of Tetralogy of Fallot, and is included in Tetralogy of Fallot for surveillance (see below). There is no good code depicting valvular pulmonary atresia with VSD; hence in CDC/BPA the code 747.31 (“pulmonary artery atresia with septal defect”) is used.

22 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Single Ventricle (Recommended Condition) Description Instead of two separate ventricles, there is only one morphological ventricle, most commonly a double-inlet left ventricle. This is always a complex heart with several associated heart defects.

Inclusions Single ventricle or common ventricle WITHOUT more specific diagnosis related to hypoplastic ventricle or atrioventricular valve (e.g. Hypoplastic left heart syndrome or tricuspid atresia). Forms include double-inlet left ventricle (most common), double inlet right ventricle, single ventricle indeterminent morphology, and other specified type of single ventricle.

Exclusions “Functional” single ventricles, which have 2 ventricles, one of which is very small, so the heart functions as a single ventricle; these are usually due to atresia of one of the atrioventricular valves. Single/common ventricle WITH more specific diagnosis related to hypoplastic ventricle or atrioventricular valves (e.g. hypoplastic left heart syndrome or tricuspid atresia) are excluded from this category but included elsewhere:  Hypoplastic Left Heart Syndrome (single right ventricle)  Tricuspid Atresia (single left ventricle)  Complete atrioventricular canal with malalignment of the AV valves to either the right or left side (creating a single ventricle)  Some severe forms of DORV (single right ventricle)

ICD-9-CM Codes 745.3

ICD-10-CM Codes Q20.4

CDC/BPA Codes 745.3

Diagnostic Methods Single ventricle is conclusively diagnosed through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included as cases when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data or which category to include the case in. Live-born children who survive should always have confirmation of the defect postnatally.

Additional Information These are very difficult hearts to code and categorize, as they often have many different descriptions. Forms include double-inlet left ventricle (most common), double inlet right ventricle, single ventricle indeterminent morphology, and other specified type of single ventricle. Other associated heart defects may include transposed/malposed great vessels, pulmonary stenosis, coarctation of aorta, and rudimentary outlet chambers (the tiny second ventricle).

23 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Tetralogy of Fallot (TOF) (Core Condition) Description The simultaneous presence of a ventricular septal defect (VSD), pulmonic and subpulmonic stenosis, a malpositioned aorta that overrides the ventricular septum, and right ventricular hypertrophy.

Inclusions Pentalogy of Fallot – Tetralogy of Fallot with an associated inter-atrial communication, either a patent foramen ovale (PFO) or an atrial septal defect (ASD). Tetralogy of Fallot (TOF) Tet Pulmonary atresia with VSD (see ‘Additional information’)

Exclusions Simultaneous occurrence of a VSD and pulmonary stenosis that has TOF physiology but has not been diagnosed as Tetralogy of Fallot. Also, some coding systems may also include Trilogy of Fallot, or Fallot’s Triad – the simultaneous presence of an atrial septal defect, pulmonic stenosis, and right ventricular hypertrophy. This is not to be included as TOF.

ICD-9-CM Codes 745.2

ICD-10-CM Codes Q21.3

CDC/BPA Codes 745.20 – 745.21, 747.31 (Note: code 746.84 (trilogy of Fallot) has been removed)

Diagnostic Methods While Tetralogy of Fallot may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Additional Information: Children with Tetralogy of Fallot may experience episodes of cyanosis or hypoxia that result from shunting of unoxygenated blood across the VSD from the right to the left ventricle. Children who have a coexisting VSD and pulmonary stenosis, but do not have Tetralogy of Fallot, may experience similar episodes. Thus, the occurrence of cyanosis or hypoxia does not necessarily mean a child has been diagnosed with Tetralogy of Fallot.

Tetralogy of Fallot is one of several abnormalities of the outflow tract of the heart known as conotruncal

24 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 defects. Some infants (approximately 1 in 7) with these defects have a deletion on the short arm of chromosome 22 (deletion 22q11.2). This deletion is diagnosed using fluorescent in situ hybridization (FISH) and will not necessarily be detected on a routine karyotype analysis.

Tetralogy of Fallot is on a spectrum with other defects having important physiological and coding differences among systems as seen here in the table.

CCHD ICD-9 CDC/BPA PVS 746.02 746.01 PA, IVS 746.01 746.00 PA, VSD (TOF) -- 747.31 TOF 745.2 745.20 - 21

Pulmonary atresia with a VSD is similar to severe forms of Tetralogy of Fallot and is included here for surveillance. There is no good code depicting valvular pulmonary atresia with VSD; hence in CDC/BPA the code 747.31 (“pulmonary artery atresia with septal defect”) is used. For pulmonary valvular atresia without a VSD (intact ventricular septum), the code 746.00 (“atresia, hypoplasia of pulmonary valve”) is used – see separate section on Pulmonary valve atresia/stenosis.

When pulmonary valve atresia occurs with a VSD, the child may experience episodes of cyanosis or hypoxia similar to those seen in children with Tetralogy of Fallot. This results from shunting of unoxygenated blood across the VSD from the right to the left ventricle. Thus, the occurrence of cyanosis or hypoxia does not necessarily mean that the child has Tetralogy of Fallot.

25 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Total Anomalous Pulmonary Venous Connection (TAPVC) (Core Condition) Description A condition in which all 4 pulmonary veins connect anomalously into the systemic venous circulation to the right atrium or the body (systemic veins) instead of the left atrium; often occurs with other cardiac defects.

Inclusions TAPVC (total anomalous pulmonary venous connection) TAPVR (total anomalous pulmonary venous return) TAPVD (total anomalous pulmonary venous drainage)

Exclusions If not all 4 veins are visibly connecting/draining anomalously (e.g. Partial Anomalous Venous Return, ICD-9-CM code 747.42 or CDC/BPA code 747.41 or Q26.3)

ICD-9-CM Codes 747.41

ICD-10-CM Codes Q26.2

CDC/BPA Codes 747.42

Diagnostic Methods While TAPVR may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy. The difficulty in viewing all 4 veins may mean that several echocardiograms may be needed to confirm the diagnosis.

Prenatal Diagnoses Not TAPVR is difficult to identify prenatally. If identified by prenatal Confirmed Postnatally ultrasound, it should not be included in surveillance data without postnatal confirmation. In addition, the absence of TAPVR on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Total anomalous pulmonary venous return and partial anomalous pulmonary venous return have not been shown to be developmentally related, although they share a similar description. Also, there are subtle differences in the meaning of anomalous venous connection, return, and drainage, but the terms are often used interchangeably.

26 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Transposition of the Great Arteries (TGA) (Core Condition) Description Transposition of the aorta and the pulmonary artery such that the aorta arises from the right ventricle (instead of the left) and the pulmonary artery arises from the left ventricle (instead of the right).

Inclusions Complete or “dextro” transposition (d-TGA without a VSD) Corrected, or “levo”transposition (l-TGA) (but exclude for CCHD screening) Incomplete transposition (d-TGA with a VSD) Transposition of the Great Arteries (TGA), not otherwise specified Transposition of the Great Vessels (TGV)

Exclusions Cases with codes for both DORV and TGA are counted in the DORV category. DORV subtype with malposed/”transposed” great arteries (CDC/BPA 745.14 are also counted in the DORV category , along with 745.13, and 745.15.

ICD-9-CM Codes 745.10, 745.12, 745.19 For CCHD Screening 745.10 (d-TGA only)

ICD-10-CM Codes Q20.3, Q20.5 For CCHD Screening Q20.3 only

CDC/BPA Codes 745.10 – 745.12, 745.18 – 745.19 For CCHD Screening 745.10 (TGA complete, no VSD), 745.11 (TGA incomplete, with VSD), 745.19 (Unspecified TGA)

Diagnostic Methods d-TGA is conclusively diagnosed through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Additional Information: In order for a child with d-TGA to survive, a communication must be present between the pulmonary and systemic circulations to allow oxygenated blood from the lungs to reach the right ventricle for distribution to the rest of the body through the abnormally placed aorta. In most instances, this communication is through a ventricular septal defect (incomplete TGA). If a VSD is not present, oxygenated blood from the

27 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 lungs is returned directly to the lungs without being distributed to the rest of the body (complete TGA).

If the defect coding system does not include unique codes to differentiate TGA with and without a VSD (complete vs. incomplete), the VSD should be coded separately when present. l-TGA (corrected transposition or “levo” transposition) is a defect in which the ventricle on the right side of the heart has the anatomic appearance of the left ventricle, and the ventricle on the left side of the heart has the anatomic appearance of the right ventricle (ventricular inversion). The pulmonary artery arises from the anatomic left ventricle and the aorta arises from the anatomic right ventricle (hence the designation of transposition). Because blood from the ventricle on the right flows through the pulmonary artery, and that from the ventricle on the left flows through the aorta, circulation is normal as long as there are no other defects.

Transposition of the great arteries is one of several abnormalities of the outflow tract of the heart known as conotruncal defects. Very few infants with these defects have a deletion on the short arm of chromosome 22 (deletion 22q11.2). This deletion is diagnosed using fluorescent in situ hybridization (FISH) and will not necessarily be detected on a routine karyotype analysis.

28 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Tricuspid Valve Atresia and Stenosis (Recommended Condition) Description Tricuspid valve atresia – Lack of patency, or failure of formation altogether, of the tricuspid valve, resulting in obstruction of blood flow from the right atrium to the right ventricle.

Tricuspid valve stenosis – Obstruction or narrowing of the tricuspid valve, which may impair blood flow from the right atrium to the right ventricle.

Inclusions Tricuspid atresia Tricuspid stenosis

Exclusions Tricuspid regurgitation without specific mention of tricuspid atresia or stenosis.

ICD-9-CM Codes 746.1

ICD-10-CM Codes Q22.4

CDC/BPA Codes 746.100 (tricuspid atresia), 746.106 (tricuspid stenosis) (excluding 746.105 – tricuspid insufficiency), For CCHD Screening 746.100 only Note: Only the tricuspid atresia is a CCHD. Many cases of tricuspid stenosis are not critical.

Diagnostic Methods While tricuspid valve atresia or stenosis may be suspected by clinical presentation, it may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation. In addition, the absence of tricuspid valve atresia or stenosis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information NA

29 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Ventricular Septal Defect (VSD) (Recommended Condition) Description An opening in the wall (septum) that separates the left and right ventricles of the heart.

Inclusions Ventricular septal defect VSD

Exclusions Ventricular septal defects that occur as part of Tetralogy of Fallot or an atrioventricular septal defect. Inflow-type, subtricuspid, and canal-type VSDs are assumed to be part of an atrioventricular septal defect and should not be coded separately .

ICD-9-CM Codes 745.4

ICD-10-CM Codes Q21.0

CDC/BPA Codes 745.40 – 745.49 (excluding 745.487 (inlet VSD in AVSD category), 745.498 (possible VSD))

Diagnostic Methods Some isolated VSDs may be diagnosed on physical examination and/or EKG without direct imaging of the heart. However, many VSDs may be conclusively diagnosed only through direct visualization of the heart by cardiac echo (echocardiography), catheterization, surgery, or autopsy.

Prenatal Diagnoses Not While VSDs may be identified by prenatal ultrasound, many close Confirmed Postnatally spontaneously before delivery. For this reason, VSDs that are diagnosed prenatally should not be included unless they have been confirmed postnatally. In addition, the absence of a VSD on prenatal ultrasound does not necessarily mean that a VSD will not be diagnosed after delivery, as it is not always possible to accurately visualize the entire ventricular septum by prenatal ultrasound.

Additional Information: VSDs may be of several types, depending on the location of the opening along the ventricular septum. The most common are: Muscular, Membranous, Perimembranous.

However, in many instances the type of VSD may not be specified in the medical record. Many muscular, membranous and perimembranous VSDs may close spontaneously in the first weeks or months of life without treatment. An aneurysm of the ventricular septum indicates a membranous or perimembranous VSD that is in the process of closing.

30 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Orofacial Choanal Atresia (Recommended Condition) Description Congenital obstruction of the opening of the nasal cavity into the nasopharynx on either side. This prevents communication of the nasal cavity with the pharynx.

Inclusions Choanal atresia, type not specified Choanal stenosis Membranous choanal atresia, with or without a bony rim Completely bony choanal atresia

Exclusions NA

ICD-9-CM Codes 748.0

ICD-10-CM Codes Q30.0

CDC/BPA Codes 748.00

Diagnostic Methods Bilateral choanal atresia is usually easily recognized at birth from the clinical presentation of obligate mouth-breathing. Unilateral choanal atresia may be suspected by clinical examination. Both conditions may be diagnosed by the inability to pass a feeding tube from the nasal passage(s) into the posterior pharynx. Both conditions may also be seen on CT or MRI scan, at surgery or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in birth defects surveillance data without postnatal confirmation. In addition, the absence of choanal atresia on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Choanal atresia or stenosis may be unilateral or bilateral. If the defect coding system includes unique codes for these different types, the location should be coded.

Choanal atresia is one of the defects reported as part of the CHARGE association, which may also include colobomas, heart defects, retarded growth and development, genital hypoplasia, and ear anomalies and/or deafness.

31 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Cleft Lip Alone (without Cleft Palate) (Core Condition) Description A defect in the upper lip resulting from incomplete fusion of the parts of the lip.

Inclusions Complete cleft lip – The defect extends through the entire lip into the floor of the nose. Incomplete cleft lip – The defect extends through part of the lip but not into the floor of the nose. Cheiloschisis

Exclusions Pseudocleft lip – An abnormal linear thickening, depressed grove, or scar- like pigmentary change on the skin of the lip without an actual cleft.

Oblique facial clefts Cleft palate without an associated cleft lip

ICD-9-CM Codes 749.1

ICD-10-CM Codes Q36.0 – Q36.9

CDC/BPA Codes 749.10-749.19

Diagnostic Methods Cleft lip is usually easily recognized on physical examination after delivery. It may also be seen on CT or MRI scan, at surgery or autopsy; plastic surgery consultation reports are often useful.

Prenatal Diagnoses Not While this condition may be identified by prenatal ultrasound, it should not Confirmed Postnatally be included in birth defects surveillance data without postnatal confirmation. In addition, the absence of cleft lip on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: Cleft lip may be unilateral, bilateral, or central in location, or not otherwise specified, as well as incomplete and complete. If the defect coding system includes unique codes for these different types, the location of the cleft should be coded.

32 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Cleft Lip with Cleft Palate (Core Condition) Description A defect in the upper lip resulting from incomplete fusion of the parts of the lip, with an opening in the roof of the mouth.

Inclusions Cleft lip with cleft of the hard and soft palate Cleft lip with cleft of the hard palate Cleft lip with cleft of the soft palate Cleft lip with cleft palate, not otherwise specified Cheilopalatoschisis

Exclusions Pseudocleft lip with cleft palate – An abnormal linear thickening, depressed grove, or scar-like pigmentary change on the skin of the lip without an actual cleft.

Oblique facial clefts with cleft palate Cleft palate without an associated cleft lip Cleft lip without an associated cleft palate

ICD-9-CM Codes 749.20 - 749.25 (only these combined cleft palate with cleft lip codes should be used, not cleft lip or cleft palate codes individually)

ICD-10-CM Codes Q37.0 – Q37.9 (only these combined cleft palate with cleft lip codes should be used, not cleft lip or cleft palate codes individually)

CDC/BPA Codes 749.20 – 749.29 (only these combined cleft lip with cleft palate codes should be used, not cleft lip or cleft palate codes individually)

Additional Information: Cleft lip with cleft palate may be unilateral, bilateral, or central in location, or not otherwise specified. If the defect coding system includes unique codes for these different types, the location of the cleft should be coded

33 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Cleft Palate Alone (without Cleft Lip) (Core Condition) Description An opening in the roof of the mouth resulting from incomplete fusion of the shelves of the palate. The opening may involve the hard palate only, the soft palate only, or both.

Inclusions Bifid or cleft uvula Cleft palate, type not specified Cleft hard palate Cleft soft palate Submucous cleft palate – A cleft in the soft palate that is covered by the mucosa or a thin muscle layer.

Exclusions Cleft palate that coexists with a cleft lip. These should be coded as cleft lip with cleft palate (see above).

ICD-9-CM Codes 749.0

ICD-10-CM Codes Q35.1 – Q35.9

CDC/BPA Codes 749.00 – 749.09

Diagnostic Methods Cleft palate is usually recognized on physical examination by direct visualization of the pharynx after delivery. It may also be seen on CT or MRI scan, at surgery or autopsy; plastic surgery consultation reports are often useful. However, submucous cleft palate and bifid uvula may be difficult to diagnose by physical examination during the first year of life.

Prenatal Diagnoses Not This condition should not be included in birth defects surveillance data Confirmed Postnatally without postnatal confirmation.

Additional Information: Cleft palate may be unilateral, bilateral, or central in location. If the defect coding system includes unique codes for these different types, the location of the cleft should be coded. Cleft palate sometimes may be described as U-shaped or V-shaped. This distinction is not clinically meaningful and these conditions should not be coded differently.

Bifid uvula is often seen in association with a submucous cleft palate. However, bifid uvula also may occur alone. The presence of submucous cleft palate does not necessarily mean that a bifid uvula is present. Cleft palate is one component of the Pierre Robin sequence, which also includes micrognathia and glossoptosis (when the tongue falls backward into the posterior pharynx). When diagnosed, Pierre Robin sequence should be coded separately.

34 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Gastrointestinal Biliary Atresia (Extended Condition) Description Congenital absence of the lumen of the extrahepatic bile ducts.

Inclusions Agenesis, absence, hypoplasia, obstruction or stricture of the bile duct(s)

Exclusions Congenital or neonatal hepatitis Intrahepatic biliary atresia (absence or paucity of bile ducts within the liver) not associated with extrahepatic biliary atresia

ICD-9-CM Codes 751.61

ICD-10-CM Codes Q44.2 - Q44.3

CDC/BPA Codes 751.65

Diagnostic Methods Biliary atresia may be suspected by the clinical presentation and the presence of elevated direct bilirubin and liver function tests. However, it may be conclusively diagnosed only through direct assessment of the bile ducts by abdominal ultrasound, CT or MRI scan, biliary excretion study (HIDA scan), surgery, or autopsy.

Prenatal Diagnoses Not While biliary atresia may be suspected by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of biliary atresia on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: The liver contains within its substance intrahepatic bile ducts and passages that join and coalesce to form two main ducts that carry bile out of the liver.

The extrahepatic bile ducts include the hepatic duct (formed by the two main ducts that carry bile out of the liver), the cystic duct (which carries bile out of the gallbladder where it is stored), and the common bile duct (formed by the junction of the hepatic duct and the cystic duct), which carries bile into the duodenum for excretion.

When extrahepatic biliary atresia is present, the intrahepatic bile ducts may also be abnormal or atretic.

Patients with biliary atresia may have jaundice due to direct hyperbilirubinemia, which is not treated with phototherapy. The more common type of neonatal jaundice due to indirect hyperbilirubinemia may be treated with phototherapy and does not indicate the presence of biliary atresia.

35 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Esophageal Atresia/Tracheoesophageal Fistula (Recommended Condition) Description Esophageal atresia – A condition in which the esophagus ends in a blind pouch and fails to connect with the stomach.

Tracheoesophageal fistula – An abnormal communication between the esophagus and the trachea. This is almost always associated with some form of esophageal atresia.

Inclusions Esophageal atresia alone Esophageal atresia with tracheoesohpageal (TE) fistula Esophageal stenosis, stricture, ring, or web TE fistula Tracheoesophageal fistula, all types

Exclusions Tracheal atresia Tracheoesophageal cleft

ICD-9-CM Codes 750.3

ICD-10-CM Codes Q39.0 – Q39.4

CDC/BPA Codes 750.30 – 750.35

Diagnostic Methods The diagnosis may be suspected by the clinical presentation of polyhydramnios, vomiting, or respiratory distress. Esophageal atresia may be diagnosed by x-ray documentation of failure of a feeding tube to pass from the pharynx into the stomach. Tracheoesophageal atresia may be conclusively diagnosed only by CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally before being included.

Additional Information: In some instances, TE fistula without esophageal atresia may not be diagnosed until weeks, months, or even a year or more after birth if the communication between the esophagus and stomach remains patent.

TE fistula is one of the defects reported as part of the VATER, or VACTERL, association, which may also include vertebral and cardiac defects, anal atresia, renal defects, and limb anomalies.

36 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Rectal and Large Intestinal Atresia/Stenosis (Recommended Condition) Description Complete or partial occlusion of the lumen of one or more segments of the large intestine and/or rectum.

Inclusions Anal atresia or stenosis Colonic atresia or stenosis Imperforate anus Large intestinal atresia or stenosis Rectal atresia or stenosis

Exclusions Apple peel intestinal atresia Duodenal atresia or stenosis Ileal atresia or stenosis Jejunal atresia or stenosis Small intestinal atresia or stenosis

ICD-9-CM Codes 751.2

ICD-10-CM Codes Q42.0 – Q42.9

CDC/BPA Codes 751.20 – 751.24

Diagnostic Methods Anal atresia (imperforate anus) is usually easily recognized at birth by physical examination. While large intestinal and rectal atresia or stenosis may be suspected by the clinical presentation of failure to pass meconium or stool, they may be conclusively diagnosed only through direct imaging of the bowel by x-ray, barium enema, surgery, or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation. In addition, the absence of intestinal, rectal or anal atresia or stenosis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: These conditions may occur with or without a fistula.

Anal atresia is one of the defects reported as part of the VATER, or VACTERL, association, which may also include vertebral and cardiac defects, TE fistula, renal defects, and limb anomalies.

37 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Small Intestinal Atresia/Stenosis (Recommended Condition) Description Complete or partial occlusion of the lumen of one or more segments of the small intestine. Small intestinal atresias are often assigned a type descriptor in the surgical or autopsy report, depending upon the severity of the atresia (types include I, II, IIIA, IIIB, and VI).

Inclusions Duodenal atresia or stenosis (also include duodenal web, membrane, diaphragm, or windsock); include all types: I, II, IIIA, IIIB, VI, and not stated Jejunal atresia or stenosis (also include jejunal web or membrane); include all types: I, II, IIIA, IIIB, VI, and not stated Ileal atresia or stenosis also (include ileal web or membrane); include all types: I, II, IIIA, IIIB, VI, and not stated Small intestinal atresia or stenosis, not otherwise specified; include all types: I, II, IIIA, IIIB, VI, and not stated

Exclusions Intestinal atresia/stenosis in an infant with cystic fibrosis Sirenomelia Anal atresia or stenosis Anal stenosis, anteriorly displaced anus Colonic atresia or stenosis Imperforate anus Large intestinal atresia or stenosis Rectal atresia or stenosis

ICD-9-CM Codes 751.1

ICD-10-CM Codes Q41.0 – Q41.9

CDC/BPA Codes 751.10-751.19

Diagnostic Methods While the diagnosis may be suspected by clinical presentation of abdominal distension, vomiting, lack of passage of meconium, “double bubble” sign on abdominal ultrasound, dilated loops of bowel on abdominal x-ray, or failure of contrast to advance on upper GI or barium enema studies, small intestinal atresia or stenosis requires conclusive diagnosis through surgery or autopsy.

Prenatal Diagnoses Not While these conditions may be suspected by prenatal ultrasound, they should Confirmed Postnatally not be included in surveillance data without postnatal confirmation; postnatal diagnosis of the small intestinal atresia or stenosis requires a surgical or autopsy report (i.e., ultrasound or abdominal x-ray studies, such as an upper GI or barium enema, are not sufficient). In addition, the absence of small intestinal atresia or stenosis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: If contiguous regions of the small intestine are involved, a compound descriptor may be used, e.g., jejunoileal atresia; codes for both affected areas should be included, but the descriptor should indicate whether these are contiguous or non-contiguous regions. One-third of all infants with duodenal atresia or stenosis have Down syndrome.

38 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Genitourinary Bladder Exstrophy (Recommended Condition) Description A defect in the lower abdominal wall and anterior wall of the bladder through which the lining of the bladder is exposed to the outside.

Inclusions Classic bladder exstrophy Ectopia vesicae Epispadias-exstrophy complex Extroversion of the bladder Variants of bladder exstrophy Vesical exstrophy

Exclusions Ambiguous genitalia without mention of bladder exstrophy Cloacal exstrophy Isolated epispadias

ICD-9-CM Codes 753.5

ICD-10-CM Codes Q64.10, Q64.19

CDC/BPA Codes 753.50

Diagnostic Methods Bladder exstrophy is easily recognized on physical examination at delivery. However, the exact nature of the defect and associated anomalies may only be distinguished by abdominal ultrasound, contrast x-ray studies, CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not These conditions may be included when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data, as it may be difficult to distinguish bladder exstrophy from cloacal exstrophy. Live-born children who survive should always have confirmation of the defect postnatally before being included.

Additional Information: In the classic form of bladder exstrophy, the entire urinary tract is open anteriorly from the urethral meatus to the umbilicus. The pubic bones are widely separated, as are the abdominal muscles and fascia. There is eversion/exposure of the posterior bladder wall. The genitalia of either gender may be involved and may be bifid or duplicated. The classic form of bladder exstrophy occurs more frequently in males.

Variants of bladder exstrophy occur more rarely and affect females more often then males. Included among these variants are superior vesical fistula, closed exstrophy, duplicate exstrophy, pseudoexstrophy, inferior vesicle. Epispadias is almost uniformly present, but should not be coded separately.

Ambiguous genitalia may be noted in patients with bladder exstrophy if an obvious scrotum and testes are not present. However, ambiguous genitalia should not be coded as a separate defect in these instances.

39 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Bladder exstrophy should be distinguished from cloacal exstrophy, in which the urinary, intestinal, and genital structures open into a common cavity (the cloaca). The distinction may only be possible with detailed diagnostic studies, surgery, or at autopsy. In cloacal exstrophy, bladder exstrophy and imperforate anus are also present. In bladder exstrophy without cloacal exstrophy, the anus is patent. When both bladder and cloacal exstrophy are present, only cloacal exstrophy should be coded.

40 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Cloacal Exstrophy (Recommended Condition) Description Congenital persistence of a common cloacal cavity into which gut, urethra, and reproductive tracts open with exstrophy of the cavity: usually accompanied by a low omphalocele, imperforate anus, and a (closed) neural tube defect.

Inclusions cloacal exstrophy OEIS complex (Omphalocele, bladder Exstrophy, Imperforate anus, Spinal defects)

Exclusions persistent cloaca (urorectal septum malformation sequence) bladder exstrophy without omphalocele/imperforate anus

ICD-9-CM Codes 751.5

ICD-10-CM Codes Q64.12

CDC/BPA Codes 751.555

Diagnostic Methods Cloacal exstrophy is easily recognized on physical examination at delivery. However, the exact nature of the defect and associated anomalies may only be distinguished by abdominal ultrasound, contrast x-ray studies, CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not This condition may be included when only diagnosed prenatally. However, Confirmed Postnatally if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data, as it may be difficult to distinguish cloacal exstrophy from bladder exstrophy. Live-born children who survive should always have confirmation of the defect postnatally before being included. At a minimum, omphalocele with bladder exstrophy (which cannot be distinguished from cloacal exstrophy prenatally) must be evident.

Additional Information: In the classic form of cloacal exstrophy, the entire bladder is open anteriorly from the urethral meatus to the low placed omphalocele. The pubic bones are widely separated, as are the abdominal muscles and fascia. The genitalia of either gender may be involved and may be bifid or duplicated.

Ambiguous genitalia may be noted in patients with cloacal exstrophy if an obvious scrotum and testes are not present. However, ambiguous genitalia should not be coded as a separate defect in these instances.

Cloacal exstrophy should be distinguished from bladder exstrophy. The distinction may only be possible with detailed diagnostic studies, surgery, or at autopsy. In cloacal exstrophy, bladder exstrophy and imperforate anus are also present. When both bladder and cloacal exstrophy are present, only cloacal exstrophy should be coded.

41 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Congenital Posterior Urethral Valves (Recommended Condition) Description Posterior urethral valves (PUV) are tissue folds of the posterior urethra and function as valves obstructing urine outflow. Congenital PUV is an abnormal congenital obstructing membrane that is located within the posterior male urethra; this valve is the most common cause of bladder outlet obstruction in male children. Congenital PUV can also be found in virilized females and rarely in normal females. Obstruction could vary from mild to severe.

Inclusions Posterior urethral valves

Exclusions Inhibition of urinary flow at any of the above sites resulting solely from neurologic impairment.

ICD-9-CM Codes 753.6

ICD-10-CM Codes Q64.2

CDC/BPA Codes 753.60

Diagnostic Methods Congenital PUV may be suspected by the clinical presentation. Newborns can present at birth with abdominal masses, distended bladder, hydronephrosis, or with respiratory distress, oligohydramnions, and Potter facies. However, the exact nature of the defect and PUV may only be distinguished by direct visualization such as cystoscopy or urethral endoscopy, or with contrast studies such as voiding cystourethrogram (VCUG). With routine obstetric ultrasonography the prenatal diagnosis of PUV is becoming increasingly common. PUV also may be diagnosed at surgery or autopsy.

Prenatal Diagnoses Not While obstructive genitourinary defects including congenital PUV may be Confirmed Postnatally identified by prenatal ultrasound, many lesions diminish or resolve spontaneously prior to birth. For this reason, PUV should not be included in surveillance data without postnatal confirmation. In addition, the absence of genitourinary obstruction on prenatal ultrasound does not necessarily mean that an obstructive defect such as PUV will not be diagnosed after delivery.

Additional Information: When urine flow is obstructed, the portion of the genitourinary tract proximal to the affected area may become enlarged and dilated with urine. Mild lesions may produce only partial or intermittent urinary obstruction without permanent damage. More severe lesions may substantially or completely obstruct urine flow, resulting in permanent damage to proximal structures, and sometimes impaired kidney function, if not relieved by surgery.

42 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Hypospadias (Recommended Condition) Description Hypospadias – Displacement of the opening of the urethra (urethral meatus) ventrally and proximally (underneath and closer to the body) in relation to the tip of the glans of the penis.

Inclusions First-degree hypospadias – The urethral meatus is located on the glans of the penis. Also called primary, 1°, glandular, or coronal hypospadias.

Second-degree hypospadias – The urethral meatus is located on the shaft of the penis. Also called secondary, 2°, or penile hypospadias.

Third-degree hypospadias – The urethral meatus is located at the base of the penis on the scrotum or perineum. Also called tertiary, 3°, scrotal, penoscrotal, or perineal hypospadias.

Hypospadias, degree not specified Hypospadias of any type with chordee

Exclusions Chordee alone without associated hypospadias Ambiguous genitalia Epispadias

ICD-9-CM Codes Hypospadias 752.61

ICD-10-CM Codes Q54.0 – Q54.9 (excluding Q54.4)

CDC/BPA Codes Hypospadias 752.60 – 752.62 (excluding 752.61 and 752.621)

Diagnostic Methods Hypospadias is usually easily recognized on physical examination at delivery. They may also be seen on contrast x-rays of the urinary tract, at surgery or autopsy.

Prenatal Diagnoses Not While this condition may be diagnosed by prenatal ultrasound, it should not Confirmed Postnatally be included in surveillance data without postnatal confirmation. In addition, the absence of hypospadias on prenatal ultrasound does not necessarily mean that they will not be diagnosed after delivery.

Additional Information: Chordee indicates a ventral (downward) curve of the penis, which may result from cutaneous or fibrous restriction. It is present in approximately 35% to 50% of cases of hypospadias.

43 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

In mild forms of first-degree hypospadias, the foreskin may appear hooded but there may be no overt clinical symptoms.

In contrast, third-degree hypospadias may be described as ambiguous genitalia. In this instance, it is important to search the medical record for detailed information (including chromosome, molecular, and hormone analyses; genetics and endocrinology consultations; surgery or autopsy reports) that may clarify the anatomy and/or indicate whether an underlying genetic condition or endocrinopathy associated with ambiguous genitalia is present. Ambiguous genitalia should not be coded if hypospadias is the only diagnosis. Hypospadias generally should not be coded if a normal female karyotype (46,XX) is reported.

44 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Renal Agenesis/Hypoplasia (Recommended Condition) Description Renal agenesis – Complete absence of the kidney Renal hypoplasia – Incomplete development of the kidney

Inclusions Renal agenesis, dysgenesis, aplasia, or hypoplasia Potter syndrome secondary to renal agenesis/hypoplasia

Exclusions Cystic renal dysplasia Cystic kidney disease Multicystic kidney Multicystic dysplastic kidney Polycystic kidney Renal cysts Renal dysplasia Small kidney

ICD-9-CM Codes 753.0

ICD-10-CM Codes Q60.0 – Q60.6

CDC/BPA Codes 753.00 – 753.01

Diagnostic Methods Bilateral renal agenesis is often suspected on physical examination after delivery because of the Potter phenotype: low-set cartilage-deficient ears, prominent epicanthal folds, flattened “parrot-beaked” nose, recessed chin, limb contractures, malformed hands, and clubbed feet. Bilateral renal hypoplasia may or may not be recognized after delivery, depending on the severity and degree of residual kidney function.

Unilateral renal agenesis or hypoplasia may not be symptomatic at delivery if the contralateral kidney is not impaired.

Each of these diagnoses may be conclusively diagnosed only through direct assessment by abdominal ultrasound, CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not Bilateral renal agenesis may be included when only diagnosed prenatally. Confirmed Postnatally However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally before being included.

While bilateral renal hypoplasia and unilateral renal agenesis/hypoplasia may be suspected by prenatal ultrasound, they should not be included in surveillance data without postnatal confirmation. Lack of visualization of a kidney on prenatal ultrasound does not always indicate that the kidney is truly absent.

45 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Additional Information: Renal agenesis and hypoplasia may be unilateral or bilateral. If the defect coding system includes unique codes for these different types, the location should be coded.

Bilateral renal agenesis, or any condition that significantly impairs the function of both kidneys in utero, may lead to the oligohydramnios sequence (Potter syndrome) due to lack of fetal urine production and the resulting decreased amniotic fluid volume. The sequence includes minor facial dysmorphism (flat face, small chin, large ears), pulmonary hypoplasia, and joint contractures.

Bilateral renal agenesis is incompatible with long-term survival unless a kidney transplant is performed. In contrast, unilateral renal agenesis/hypoplasia may not be diagnosed until weeks, months, or even years after birth if the contralateral kidney function is normal. Some unilateral cases may be diagnosed only as incidental findings during evaluation for other conditions, and some may never be recognized.

46 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Musculoskeletal Clubfoot (Recommended Condition) Description An abnormality consisting of plantar flexion (downward pointing of the foot and toes), inversion (varus, or internal rotation), and metatarsus adductus (deviation of the forefoot toward the body) of the foot. An abnormally high arch (pes cavus) and midfoot flexion crease usually are also present.

Inclusions Talipes equinovarus (including congenital, idiopathic, and neurogenic), talipes not otherwise specified, clubfoot not otherwise specified.

Exclusions Talipes equinovalgus, talipes calcaneovarus, talipes calcaneovalgus, talipes varus, talipes valgus, vertical talus, metatarsus adductus alone, metatarsus varus alone, pes varus, pes valgus, pes planus, rocker-bottom foot, positional or postural clubfoot.

ICD-9-CM Codes 754.51, 754.70

ICD-10-CM Codes Q66.0, Q66.89

CDC/BPA Codes 754.50, 754.73 excluding 754.735

Diagnostic Methods Clubfoot is diagnosed by physical exam. X-rays and imaging studies may provide supplemental information but are not necessary for diagnosis.

Prenatal Diagnoses Not Clubfoot can be identified or suspected on prenatal ultrasound; however, it Confirmed Postnatally should not be included in birth defects surveillance data without postnatal confirmation. The primary utility of prenatal diagnosis of clubfoot is in its indication for additional genetic counseling and testing through amniocentesis or other means.

Additional Information: Clubfoot can occur on either side alone or in both feet. The calf muscles on the affected side are permanently small. While in some instances the affected foot can be moved passively to a normal or near-normal position (so-called positional clubfoot), more commonly there is a component of rigidity which can be severe.

Clubfoot often occurs alone, but can be associated with other musculoskeletal abnormalities such as torticollis or developmental dysplasia of the hip, and with genetic syndromes such as triploidy, Larsen syndrome, or Moebius sequence. Neurogenic clubfoot results from impaired innervation of the foot during development. Examples of conditions that can result in such impairment include spina bifida, arthrogryposis, sacral agenesis, spinal muscular atrophy, and other paralytic states.

47 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Craniosynostosis (Extended Condition) Description Premature closure (fusion) of one or several cranial sutures (connective tissue membranes that separate the bones of the developing skull)

Inclusions Craniosynostosis subtypes are typically named by the cranial sutures involved: sagittal, coronal, lambdoidal, or metopic craniosynostoses are the most common conditions. Mixed or multiple sutures can be involved, and rarely basilar or squamosal sutures fuse prematurely.

Cranial shapes that may or may not result from craniosynostosis: • DOLICHOCEPHALY/SCAPHOCEPHALY--long, wedge-shaped skull with a prominent forehead and occiputresulting from premature closure of sagittal suture • BRACHYCEPHALY--high, wide, short skull resulting from premature fusion of coronal sutures • OXYCEPHALY/TURRICEPHALY/ACROCEPHALY--tall, tower-like skull (sometimes pointed) resulting frompremature fusion of coronal and usually sagittal sutures • PLAGIOCEPHALY--asymmetric skull shape which can result from unilateral closure of coronal and/or lambdoidalsuture • TRIGONOCEPHALY--triangular-shaped skull resulting from premature closure of metopic suture

Exclusions Deformational plagiocephaly without synostosis Other abnormal head shapes described above without craniosynostosis

ICD-9-CM Codes No specific code; 756.0 includes craniosynostosis and “other anomalies of skull and face bones”

ICD-10-CM Codes Q75.0

CDC/BPA Codes 756.00-756.03

Diagnostic Methods Confirmation of a diagnosis of craniosynostosis is by postnatal skull X-ray and/or tomography (CT or CAT scan, the “gold standard”), operative/pathology reports, or autopsy; plastic surgery or neurosurgery consultation reports are often useful

Prenatal Diagnoses Not Craniosynostosis can be identified or suspected on prenatal ultrasound; Confirmed Postnatally however, it should not be included in birth defects surveillance data without postnatal confirmation.

Additional Information: Craniosynostosis is seen in many syndromes such as the acrocephalosyndactylies, in which there are limb abnormalities such as syndactyly. A particularly severe form of craniosynostosis of multiple sutures is called cloverleaf skull or Kleeblattschädel; this condition is usually associated with a syndrome diagnosis.

48 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Diaphragmatic Hernia (Recommended Condition) Description Incomplete formation of the diaphragm through which a portion of the abdominal contents herniate into the thoracic cavity.

Inclusions Absence of the diaphragm Bochdalek hernia – Herniation through a defect in the posterolateral portion of the diaphragm.

Diaphragmatic hernia, type not specified Hemidiaphragm

Morgagni hernia – Herniation through a defect in the anterior portion of the diaphragm.

Paraesophageal hernia – Herniation through a defect in the central portion of the diaphragm surrounding the esophagus.

Exclusions Eventration of the diaphragm – Weakness in, or absence of, the muscles of the diaphragm which allows upward displacement of a portion of the abdominal contents. However, there is no true herniation of contents through the diaphragm into the thoracic cavity.

ICD-9-CM Codes 756.6

ICD-10-CM Codes Q79.0, Q79.1

CDC/BPA Codes 756.610 – 756.617

Diagnostic Methods While diaphragmatic hernia may be suspected by the clinical presentation of respiratory distress, feeding intolerance, and/or cardiac compromise, it may be conclusively diagnosed only through x-ray, contrast study of the bowel, CT or MRI scan, surgery, or autopsy.

Prenatal Diagnoses Not Diaphragmatic hernia may be included in surveillance data when only Confirmed Postnatally diagnosed prenatally. However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live- born children who survive should always have confirmation of the defect postnatally before being included.

Additional Information: Children with diaphragmatic hernia often have accompanying abnormalities of the heart, intestine, and lungs, including hypoplastic lungs, which result from the abnormal location of abdominal organs within the thoracic cavity during development.

49 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Gastroschisis (Core Condition) Description A congenital opening or fissure in the anterior abdominal wall lateral to the umbilicus through which the small intestine, part of the large intestine, and occasionally the liver and spleen, may herniate. The opening is separated from the umbilicus by a small bridge of skin, and the herniating organs are not covered by a protective membrane. Gastroschisis usually occurs on the right side of the umbilicus, although it may occur on the left.

Inclusions Gastroschisis

Exclusions Omphalocele

ICD-9-CM Codes Prior to October 1, 2009 - 756.79 (shared code with omphalocele) October 1, 2009 and later – 756.73

ICD-10-CM Codes Q79.3

CDC/BPA Codes 756.71

Diagnostic Methods Gastroschisis is usually easily recognized on physical examination after delivery. However, in some instances, it may be conclusively distinguished from omphalocele only at surgery or autopsy.

Prenatal Diagnoses Not Gastroschisis may be included when only diagnosed prenatally. However, it Confirmed Postnatally may be difficult to distinguish gastroschisis from omphalocele on prenatal ultrasound, and the terms sometimes are used interchangeably. If it is possible to ascertain the degree of certainty of the prenatal diagnosis and the location of the umbilical cord insertion relative to the abdominal defect, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally before being included. In addition, the absence of gastroschisis on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: The distinction between gastroschisis and omphalocele is important because they have different etiologies and different implications for treatment and long-term survival.

In gastroschisis, the umbilicus and cord are normal and separated from the abdominal wall defect by a small bridge of skin. The herniating organs are not covered by a protective membrane. However, they

50 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 may appear matted and covered by a thick fibrous material as a result of prolonged exposure to amniotic fluid in utero.

In omphalocele, abdominal organs herniate through the umbilicus into the umbilical cord. There is no bridge of skin between the abdominal wall defect and the umbilicus and cord. While the herniating organs are covered by a protective membrane, this may rupture before, during, or after delivery.

Gastroschisis may be one of the defects reported as part of the Limb-Body Wall complex. This is a disruption complex of the lateral body wall, which may also include limb reductions, neural tube defects, heart defects, and other anomalies.

Maternal serum alphafetoprotein (MSAFP) and/or amniotic fluid alphafetoprotein (AFAFP) may be elevated with gastroschisis. However, these screening tests alone are not sufficient to diagnose the condition.

51 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Limb Deficiencies (Reduction Defects) (Core Condition) Description Complete or partial absence of the upper arm (humerus), lower arm (radius and/or ulna), wrist (carpals), hand (metacarpals), fingers (phalanges), thigh (femur), lower leg (tibia and/or fibula), ankle (tarsals), foot (metatarsals), or toes (phalanges).

Inclusions Transverse limb deficiency (reduction) – Complete or partial absence of the distal (furthest from the body) structures of the arm or leg in a transverse (cross-wise) plane at the point where the deficiency begins. Structures proximal to the point where the deficiency begins remain essentially intact. Selected terms used for types of transverse limb deficiencies include:  Acheiria – Absence of a hand  Adactyly – Absence of digits (fingers or toes), excluding isolated missing thumb (see below)  Aphalangia – Absence of phalanges. Fingers contain 3 phalanges each. The thumb (pollex) and big toe (hallux) contain 2 phalanges. The other toes contain 3 phalanges each.  Amelia – Complete absence of the upper limb (humerus, radius, ulna, wrist, hand and fingers) or complete absence of the lower limb (femur, tibia, fibula, ankle, foot, and toes).  Hemimelia, Meromelia – Partial absence of a limb. This may refer to either transverse or longitudinal deficiency (reduction).  Oligodactyly – Deficiency of fewer than 5 digits.

Transverse terminal deficiency (reduction) – Complete absence of the distal structures of the arm with the proximal structures intact. This term usually refers to deficiency below the elbow, or complete absence of the distal structures of the leg with the proximal structures intact.

Congenital amputation, type not specified.

Longitudinal limb deficiency (reduction) – Partial absence of the upper limb in parallel with the long axis of the arm or partial absence of the lower limb in parallel with the long axis of the leg. These may involve preaxial (on the thumb side/ on the big toe side), postaxial (on the fifth finger side/ on the fifth toe side), or central parts of the arm or leg. Selected terms used for types of longitudinal limb reductions include:  Ectrodactyly  Ectromelia  Isolated missing thumb  Lobster claw hand  Radial, ulnar, tibial, or fibular aplasia or hypoplasia  Radial, ulnar, tibial, or fibular ray deficiency

Split-hand malformation (split hand/split foot malformation, SHSF) – A central longitudinal limb deficiency (reduction) in which there is complete or partial absence of one or more of the central rays (second through fourth

52 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

fingers and their associated metacarpal bones) of the hand.

Split-foot malformation (split hand/split foot malformation, SHSF) – A central longitudinal limb deficiency (reduction) in which there is complete or partial absence of one or more of the central rays (second through fourth toes and their associated metatarsal bones) of the foot.

Intercalary limb reduction – Complete or partial absence of the proximal (closest to the body) or middle segments of the upper limb or lower limb with all or part of the distal segment present.

Phocomelia is a general term used for any type of intercalary limb reduction.

Deficiency (reduction defect) of the upper limb or lower limb not elsewhere coded or of unspecified type – Complete or partial absence of the upper limb or lower limb that does not fall within the above categories or for which there is no specific description.

Exclusions Shortened arms, forearms, hands, upper and/or lower legs, feet, toes or fingers that have all of their component parts, including those that are part of a generalized chondodystrophy, osteodystrophy, or dwarfism.

Hypoplastic nails

ICD-9-CM Codes 755.2 – 755.4

ICD-10-CM Codes Q71.0 – Q71.9, Q72.0 – Q72.9, Q73.0 – Q73.8

CDC/BPA Codes 755.20 – 755.49

Diagnostic Methods Limb deficiencies (reductions) are usually easily recognized on physical examination at delivery. However, the exact nature of the defect may only be distinguished by x-ray, surgery, or autopsy.

Prenatal Diagnoses Not While these conditions may be identified by prenatal ultrasound, they Confirmed Postnatally generally should not be included in surveillance data without postnatal confirmation. However, if it is possible to ascertain the degree of certainty of the prenatal diagnosis, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Lack of visualization of a bone or limb on prenatal ultrasound does not necessarily mean that the bone or limb truly is not present. Live-born children who survive should always have confirmation of the defect postnatally before being included.

Additional Information: The terminology for limb deficiency (reduction) is often confusing. Some terms (such as “phocomelia”) have been misused and others (such as “ectrodactyly”) have been used for both longitudinal and transverse defects. If medical record review is available, it is important to look for a complete description of all structures that are present and absent in order to verify the diagnosis.

53 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Transverse limb deficiency (reduction) may be seen in association with amniotic bands. When both are present, both conditions should be coded.

Rudimentary or nubbin toes may be present at the distal end of a transverse limb deficiency (reduction). Their presence alone does not change the classification of the defect as transverse.

Joint contractures or clubfoot/clubhand are commonly seen in association with longitudinal limb deficiencies.

Intercalary deficiency (phocomelia) has been associated with the use of thalidomide during early pregnancy. However, thalidomide use may result in a number of other defects, including longitudinal deficiency. Intercalary defects also may occur without exposure to thalidomide.

Limb deficiency is one of the defects that may be reported as part of:

The VATER or VACTERL association, which also may include vertebral, cardiac and renal defects, TE fistula, and anal atresia.

Oromandibular-Limb Hypogenesis spectrum, which also may include a small mouth, small chin (micrognathia), small tongue (hypoglossia), and sixth and seventh cranial nerve palsies (Moebius sequence).

54 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Omphalocele (Recommended Condition) Description A defect in the anterior abdominal wall in which the umbilical ring is widened, allowing herniation of abdominal organs, including the small intestine, part of the large intestine, and occasionally the liver and spleen, into the umbilical cord. The herniating organs are covered by a nearly transparent membranous sac.

Inclusions Omphalocele

Exclusions Gastroschisis Umbilical hernia

ICD-9-CM Codes Prior to October 1, 2009 - 756.79 (shared code with gastroschisis) After October 1, 2009 – 756.72

ICD-10-CM Codes Q79.2

CDC/BPA Codes 756.70

Diagnostic Methods Omphalocele is usually easily recognized on physical examination after delivery. However, in some instances, it may be conclusively distinguished from gastroschisis only at surgery or autopsy.

Prenatal Diagnoses Not Omphalocele may be included when only diagnosed prenatally. However, it Confirmed Postnatally may be difficult to distinguish omphalocele from gastroschisis on prenatal ultrasound, and the terms sometimes are used interchangeably. If it is possible to ascertain the degree of certainty of the prenatal diagnosis and the location of the umbilical cord insertion relative to the abdominal defect, this should factor into the decision as to whether or not to include an individual case in the surveillance data. Live-born children who survive should always have confirmation of the defect postnatally before being included. In addition, the absence of omphalocele on prenatal ultrasound does not necessarily mean that it will not be diagnosed after delivery.

Additional Information: The distinction between omphalocele and gastroschisis is important because they have different etiologies and different implications for treatment and long-term survival.

55 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 appear matted and covered by a thick fibrous material as a result of prolonged exposure to amniotic fluid in utero.

Omphalocele is one of the defects reported as part of the Omphalocele-Exstrophy-Imperforate Anus-Spina Bifida (OEIS) complex.

Maternal serum alphafetoprotein (MSAFP) and/or amniotic fluid alphafetoprotein (AFAFP) may be elevated with omphalocele. However, these screening tests alone are not sufficient to diagnose the condition.

In contrast to omphalocele, umbilical hernias are completely covered by normal skin.

56 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Chromosomal Deletion 22q11.2 (Extended Condition) Description Chromosome abnormality resulting from genomic microdeletions within a critical region on the long arm of chromosome 22 (22q11.2)

Inclusions Deletion 22q11.2 syndrome Chromosome deletion 22q11.2 DiGeorge syndrome with chromosome 22q11.2 deletion Thymic aplasia syndrome with chromosome 22q11.2 deletion Velo-cardio-facial (VCF) syndrome with chromosome 22q11.2 deletion Conotruncal anomaly face (CTAF) syndrome with chromosome 22q11.2 deletion Cayler cardiofacial (asymmetric crying facies) syndrome with chromosome 22q11.2 deletion Shprintzen syndrome with chromosome 22q11.2 deletion Sedlackova (velofacial hypoplasia) syndrome with chromosome 22q11.2 deletion Takao syndrome with chromosome 22q11.2 deletion

Exclusions Named phenotypes without cytogenetic abnormalities TBX1 mutations without cytogenetic abnormalities Deletion 22q13.3 Duplication 22q11.2 Shprintzen-Goldberg syndrome ICD-9-CM Codes 758.32

ICD-10-CM Codes Q93.81

CDC/BPA Codes 758.37

Diagnostic Methods Deletion 22q11.2 syndrome might be suspected on physical examination. However, it is diagnosed conclusively only through molecular cytogenetic analysis (typically chromosomal microarray or fluorescence in situ hybridization). Rarely, direct analysis of the child’s chromosomes (karyotype) can suggest a 22q11.2 deletion associated with an unbalanced translocation involving another chromosome, but molecular cytogenetic analysis would be used to confirm the 22q11.2 deletion. All of these laboratory techniques may be done with blood or tissue cells.

Prenatal Diagnoses Not Deletion 22q11.2 can be included only when diagnosed through molecular Confirmed Postnatally cytogenetic analysis obtained from amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS).

Additional Information: The deletion 22q11.2 syndrome phenotype can include cardiac abnormalities, abnormal or dysmorphic facial features, thymic aplasia, cleft palate or velopharyngeal insufficiency, or hypocalcemia due to

57 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 hypoparathyroidism; the “CATCH” acronym appeared in the literature previously to describe these cardinal features, but this term is no longer used. Chromosome 22q11.2 deletions can be found with any of these features in isolation, and is sometimes not diagnosed until adulthood, e.g., in subtly affected parents of children with deletion 22q11.2 syndrome phenotypes or defects.

The term “DiGeorge syndrome” was used originally (before 22q11.2 deletions were described) for children with the combination of thymic and parathyroid defects; the ICD-9-CM code 279.11 or ICD-10- CM code D82.1 is sometimes still found in medical records with this diagnosis, but should be used in combination with the chromosomal codes listed above for individuals with documented 22q11.2 deletions.

The most common 22q11.2 deletions can be detected by commercially-available fluorescence in situ hybridization (FISH) probes, but normal FISH results with smaller 22q11.2 deletions seen on chromosomal microarrays are occasionally reported. These findings are sometimes called “atypical” deletions and labelled with specific letters (e.g., “C-D” deletion) or numbers describing the chromosomal loci; such cases should be included for surveillance purposes if the microarray interpretation is consistent with a pathogenic or clinically-significant 22q11.2 deletion.

58 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Trisomy 13 (Recommended Condition) Description The presence of three copies of all or a large part of chromosome 13.

Inclusions Patau syndrome Mosaic Patau syndrome Mosaic trisomy 13 Translocation Patau syndrome Translocation trisomy 13 Trisomy 13, not otherwise specified Trisomy D1, not otherwise specified

Exclusions Balanced translocations involving chromosome 13

ICD-9-CM Codes 758.1

ICD-10-CM Codes Q91.4 – Q91.7

CDC/BPA Codes 758.10 – 758.19

Diagnostic Methods Trisomy 13 may be suspected on physical examination. However, it may be diagnosed conclusively only through direct analysis of the infant’s chromosomes (karyotype). The chromosomes may be obtained from blood or tissue cells.

Prenatal Diagnoses Not Trisomy 13 may be included when only diagnosed through direct analysis of Confirmed Postnatally fetal chromosomes or molecular cytogenetic analysis (typically chromosomal microarray or fluorescence in situ hybridization) of cells obtained from amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS). However, when mosaic trisomy 13 is noted, the defect should be confirmed postnatally on a specimen obtained directly from the infant or fetus after birth (see below).

Additional Information: When the two copies of chromosome 13 from one parent do not separate during egg or sperm formation, three copies of the entire chromosome 13 will be present in the fetus. In this instance, the karyotype is written as 47,XX,+13 or 47,XY,+13. This is the most common type of trisomy 13 and is associated with advanced maternal age, particularly of 35 years or greater.

Translocation trisomy 13 occurs when two separate copies of chromosome 13 are present, but a third copy of part of chromosome 13 is attached to another chromosome. In this instance, there are 46 total chromosomes present, but 3 copies of part of chromosome 13.

Mosaic trisomy 13 occurs when some, but not all, of the cells in the body contain three copies of all or a large part of chromosome 13. In this instance, the karyotype is written as 46,XY/47,XY,+13, for example. Because the placenta may contain mosaic cell lines not present in the fetus, mosaic trisomy 13 diagnosed through chorionic villus sampling should always be confirmed by direct examination of fetal chromosomes from amniocentesis, PUBS, or preferably postnatal blood or tissue samples.

59 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Approximately 80% of infants with trisomy 13 do not survive beyond the first month of life. Major malformations associated with trisomy 13 may include holoprosencephaly, microcephaly, meningomyelocele, cleft lip and/or palate, microphthalmia, retinal dysplasia, polydactyly, heart defects (most commonly a VSD), omphalocele, and genitourinary defects, among others. Among children who survive the newborn period, severe developmental delay is virtually always present as may be deafness, visual impairment, minor motor seizures, and apneic spells.

Infants with mosaic trisomy 13 may be less severely affected with variable degrees of developmental delay and longer survival. Infants with partial trisomy for the proximal segment of chromosome 13 (13pter→q14) exhibit a nonspecific pattern of abnormalities with near-normal survival. Approximately 25% of infants with partial trisomy for the distal segment of chromosome 13 (13q14→qter) die during early postnatal life.

Children who survive exhibit severe developmental delay and specific abnormalities.

Major malformations that occur with trisomy 13 in the same infant should be coded separately, as their presence may varies among affected individuals.

60 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Trisomy 18 (Recommended Condition) Description The presence of three copies of all or a large part of chromosome 18.

Inclusions Edwards syndrome Mosaic Edwards syndrome Mosaic trisomy 18 Translocation Edwards syndrome Translocation trisomy 18 Trisomy 18, not otherwise specified

Exclusions Balanced translocations involving chromosome 18

ICD-9-CM Codes 758.2

ICD-10-CM Codes Q91.0 – Q91.3

CDC/BPA Codes 758.20 – 758.29

Diagnostic Methods Trisomy 18 may be suspected on physical examination. However, it may be diagnosed conclusively only through direct analysis of the infant’s chromosomes (karyotype). The chromosomes may be obtained from blood or tissue cells.

Prenatal Diagnoses Not Trisomy 18 may be included when only diagnosed through direct analysis of Confirmed Postnatally fetal chromosomes or molecular cytogenetic analysis (typically chromosomal microarray or fluorescence in situ hybridization) of cells obtained from amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS). However, when mosaic trisomy 13 is noted, the defect should be confirmed postnatally on a specimen obtained directly from the infant or fetus after birth (see below).

Additional Information: When the two copies of chromosome 18 from one parent do not separate during egg or sperm formation, three copies of the entire chromosome 18 will be present in the fetus. In this instance, the karyotype is written as 47,XX,+18 or 47,XY,+18. This is the most common type of trisomy 18 and is associated with advanced maternal age, particularly of 35 years or greater.

Translocation trisomy 18 occurs when two separate copies of chromosome 18 are present, but a third copy of part of chromosome 18 is attached to another chromosome. In this instance, there are 46 total chromosomes present, but 3 copies of part of chromosome 18.

Mosaic trisomy 18 occurs when some, but not all, of the cells in the body contain three copies of all or a large part of chromosome 18. In this instance, the karyotype is written as 46,XY/47,XY,+18, for example. Because the placenta may contain mosaic cell lines not present in the fetus, mosaic trisomy 18 diagnosed through chorionic villus sampling should always be confirmed by direct examination of fetal chromosomes from amniocentesis, PUBS, or preferably postnatal blood or tissue samples.

Most pregnancies affected with trisomy 18 result in spontaneous abortion. Approximately 50% of live-

61 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 born infants with trisomy 18 do not survive beyond the first week of life. Only 5% to 10% survive beyond the first year of life. Major malformations associated with trisomy 18 may include microcephaly, micrognathia, cleft lip and/or palate, heart defects, omphalocele, and renal defects, among others. Minor anomalies associated with trisomy 18 may include low-set malformed auricles (external ears), overlapping of the index and fifth fingers over the third and fourth fingers, absent distal crease on the fifth finger, hirsutism (excess hair) of the forehead and back, lateral deviation of the hands, a hypoplastic thumb, a single transverse palmar crease, and rocker-bottom feet, among others. Developmental delay is virtually always present, as may be hypertonicity, a weak cry, growth retardation, hypoplasia of skeletal muscle and subcutaneous fat, and clenched hands.

Infants with mosaic trisomy 18 may be less severely affected, with variable degrees of developmental delay and longer survival. Infants with trisomy of only the short arm of chromosome 18 (partial trisomy 18) exhibit a nonspecific pattern of abnormalities with mild to no developmental delay. Infants with trisomy of the short arm, centromere, and proximal third of the long arm of chromosome 18 exhibit features of trisomy 18 but not the entire spectrum of abnormalities. Infants with trisomy of only one-third to one-half of the long arm of chromosome 18 exhibit features of trisomy 18 but have longer survival and less severe developmental delays.

Major malformations that occur with trisomy 18 in the same infant should be coded separately, as their presence varies among affected individuals.

62 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Trisomy 21 (Down Syndrome) (Core Condition) Description The presence of three copies of all or a large part of chromosome 21.

Inclusions Down syndrome Mosaic Down syndrome Mosaic trisomy 21 Translocation Down syndrome Translocation trisomy 21 Trisomy 21, not otherwise specified

Exclusions Balanced translocations involving chromosome 21 “Downs facies” without associated trisomy 21.

ICD-9-CM Codes 758.0

ICD-10-CM Codes Q90.0 – Q90.9

CDC/BPA Codes 758.00 – 758.09

Diagnostic Methods Down syndrome may be suspected on physical examination. However, it may be diagnosed conclusively only through direct analysis of the infant’s chromosomes (karyotype). The chromosomes may be obtained from blood or tissue cells.

Prenatal Diagnoses Not Down syndrome may be included when only diagnosed through direct Confirmed Postnatally analysis of fetal chromosomes or molecular cytogenetic analysis (typically chromosomal microarray or fluorescence in situ hybridization) of cells obtained from amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS). However, when mosaic trisomy 21 is noted, the defect should be confirmed postnatally on a specimen obtained directly from the infant or fetus after birth (see below).

Additional Information: When the two copies of chromosome 21 from one parent do not separate during egg or sperm formation, three copies of the entire chromosome 21 will be present in the fetus. In this instance, the karyotype is written as 47,XX,+21 or 47,XY,+21. This is the most common type of trisomy 21 and is associated with advanced maternal age, particularly of 35 years or greater.

Translocation trisomy 21 occurs when two separate copies of chromosome 21 are present, but a third copy

63 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 of part of chromosome 21 is attached to another chromosome. In this instance, there are 46 total chromosomes present, but 3 copies of part of chromosome 21.

Mosaic trisomy 21 occurs when some, but not all, of the cells in the body contain three copies of all or a large part of chromosome 21. In this instance, the karyotype is written as 46,XY/47,XY,+21, for example. Because the placenta may contain mosaic cell lines not present in the fetus, mosaic trisomy 21 diagnosed through chorionic villus sampling should always be confirmed by direct examination of fetal chromosomes from amniocentesis, PUBS, or preferably postnatal blood or tissue samples.

Infants with Down syndrome have a typical appearance and other characteristics, including decreased muscle tone (hypotonia), a weak startle (Moro) reflex, hyperflexible joints, a flattened facial profile, upslanting eyes, abnormally shaped external ears (auricles), loose skin on the back of the neck, dysplasia of the pelvic bones, incurving of the fifth finger (clinodactyly), and a single transverse crease in the palm of the hand (Simian crease). Developmental delay is virtually always present. Major malformations associated with Down syndrome include heart defects (most notably atrioventricular septal defects), gastrointestinal defects, and vertebral abnormalities, among others.

Major malformations that occur with Down syndrome in the same infant should be coded separately, as their presence may varies among affected individuals.

Mongolism is an outdated term for Down syndrome.

64 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015

Turner Syndrome (Extended Condition) Description Presence of an absent or structurally abnormal second X chromosome in a phenotypic female.

Inclusions Turner syndrome Turner syndrome mosaicism (45,X with 46,XX, 46,XY, 47,XXX, autosomal translocation, or combinations of the above) Turner syndrome with a ring X chromosome Turner syndrome with an isochromosome X Turner syndrome with Xp deletion Gonadal dysgenesis, many forms

Exclusions Chromosome Xq24 deletions without Turner syndrome phenotype Chromosomal deletions distal to Xp22.3 without Turner syndrome phenotype Males, e.g., with 46,XY/45,X mosaicism

ICD-9-CM Codes 758.6

ICD-10-CM Codes Q96.0- Q96.9

CDC/BPA Codes 758.60-758.69

Diagnostic Methods Physical examination often provides a strong clinical suspicion of Turner syndrome. However, it is diagnosed conclusively only through direct analysis of the infant’s chromosomes (karyotype). The chromosomes may be obtained from blood (lymphocytes), or tissue cells (skin fibroblasts, chorionic villi). Cheek (buccal) swab analysis is inadequate for diagnosis, although it is useful to evaluate mosaicism. Molecular cytogenetic analysis (typically chromosomal microarray or fluorescence in situ hybridization) is not the standard type of laboratory investigation for Turner syndrome, but recent studies show that chromosomal microarray can detect the missing X chromosome for both complete and mosaic forms. Fluorescence in situ hybridization (FISH) performed prenatally can detect 45,X but not other forms; if Turner syndrome is strongly suspected in the fetus and FISH is negative, postnatal blood karyotyping must be performed.

Prenatal Diagnoses Not Turner syndrome can be included only when diagnosed through direct analysis Confirmed Postnatally of fetal chromosomes (karyotype) or molecular cytogenetic analysis of cells obtained from amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS). However, when mosaic Turner syndrome is noted, the abnormality should be confirmed postnatally on a specimen obtained directly from the infant or fetus after birth (see below).

Additional Information: The appearance of a fetus or infant with Turner syndrome varies greatly from a severely hydropic nonviable fetus to a normal appearing infant. The classic phenotype includes physical features that represent the residua of fetal lymphatic distention (body edema, neck edema, low hairline, low-set ears, downslanted eyes,

65 Appendix 3.1 Case Definition NBDPN Guidelines for Conducting Birth Defects Surveillance updated 03/2015 loose neck skin, puffy hands and feet), and congenital heart defects (coarctation, other forms of left-heart obstruction).The facial appearance might include wide-spaced eyes and small chin. Renal anomalies are seen in 30% (horseshoe kidney, absent kidney). Although short stature occurs in most children with Turner syndrome, infants usually have normal size.

There are different causes of the different chromosome types of Turner syndrome. When 45,X is present, the chromosomal abnormality occurred as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction resulted in reproductive cells with an abnormal number of chromosomes.

Mosaic Turner syndrome occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes, and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism. Rarely, Turner syndrome caused by a partial deletion of the X chromosome can be passed from one generation to the next.

Birth defects, especially heart and kidney defects, that occur with Turner syndrome should be coded separately, as their presence may varies among affected individuals.

Bonnevie-Ullrich and Ullrich-Turner are outdated terms for Turner syndrome.

66 Appendix 3.1 Case Definition IBDPR Reportable Conditions List (Updated 11/29/2018) www.birthdefects.in.gov (Conditions are reportable for ages 0-3 unless otherwise specified)

ICD-10-CM Diagnosis Codes Categories of Congenital Anomalies Q00.0 – Q07.9, G90.1 Central nervous system Q10.0 – Q18.9, Q35.1 – Q38.8 Orofacial Q20.0 – Q28.9, P29.3 Cardiovascular Q30.0 – Q34.9 Respiratory Q39.0 – Q45.9 Gastrointestinal Q50.01 – Q64.9 Genitourinary Q65.00 – Q79.9 Musculoskeletal Q80.0 – Q84.9 Integument Q85.0 – Q89.9 Congenital anomalies, other & unspecified Q86.0* Fetal alcohol syndrome (*report up to age 5) Q90.0 – Q99.9 Chromosome & syndromes

ICD-10-CM Diagnosis Codes Other Reportable Conditions D55.0 – D58.9 Hereditary hemolytic anemias D61.0 – D61.8 Constitutional aplastic anemia D66, D67, D68.0 – D68.9 Coagulation defects D69.3 – D69.42 Primary thrombocytopenia D72.0, D74.0, D75.0 Other disorders of blood D80.0 – D89.9 Immunodeficiency & immune mechanism disorders E00.0 – E00.9, E03.0-E03.2, E25.0 – E25.9 Endocrine newborn screening conditions E07.1 – E07.9 Other disorders of thyroid E70.0 – E74.9, E77.1, E78.71, E78.72 E80.3, Metabolic newborn screening conditions E88.40 – E88.49 E75.00 – E75.29, G31.81, G31.82 Cerebral degenerations usually manifesting in childhood E76.01 – E76.3 Mucopolysaccharidoses E84.0 – E84.9 Cystic fibrosis F84.0 – F84.9* Pervasive developmental disorders (*report at any age) G12.0 – G12.9 Spinal muscular atrophy and related syndromes G71.0 – G73.7 Muscular dystrophies H35.1 – H35.179 Retinopathy of prematurity H35.50 – H35.54 Hereditary retinal dystrophies H47.61 – H47.619 Cortical blindness H49.00 – H51.9 Strabismus & disorders of binocular eye movement H54.0 – H54.8 Visual impairment & blindness H55.01 Congenital nystagmus H90.0 – H91.93 Hearing loss K40.0 – K40.91 Inguinal hernia K42.0 – K42.9 Umbilical hernia M26.00 – M26.19 Anomalies of jaw N44.00 – N44.04 Torsion of testes P04.1, P04.14, P04.15, P04.16, P04.18, P04.19, Fetus/newborn exposed to substances (including NAS) P04.3, P04.40-P04.49, P04.81, P04.89, P04.9, P96.1 P00.2, P35.0 – P37.9, A33 Congenital infections

IBDPR Targeted Conditions List (updated 11/29/2018) www.birthdefects.in.gov (Requires Medical Chart Abstraction for Confirmation of Condition)

Condition ICD-10-CM Diagnosis Codes Central Nervous System Defects Anencephalus Q00.0-Q00.1 Encephalocele Q01.0-Q01.9 Holoprosencephaly Q04.2 Spina bifida without anencephalus Q05.0-Q05.09, Q07.01, Q07.3 Eye/Ear Defects Anophthalmia Q11.0-Q11.2 Congenital cataract Q12.0 Anotia/microtia Q16.0, Q17.2 Cardiovascular Defects Aortic valve stenosis Q23.0 Atrial septal defect Q21.1 Atrioventricular septal defect Q21.2 Coarctation of the aorta Q25.1 Common truncus Q20.0 Double outlet right ventricle Q20.1 Ebstein anomaly Q22.5 Hypoplastic left heart syndrome Q23.4 Interrupted aortic arch Q25.2, Q25.4 Pulmonary valve stenosis Q22.0, Q22.1 Single ventricle Q20.4 Tetralogy of Fallot Q21.3 Total anomalous pulmonary venous connection Q26.2 Transposition of the great arteries Q20.3, Q02.5 Tricuspid valve atresia and stenosis Q22.4 Ventricular septal defect Q21.0 Orofacial Defects Choanal atresia Q30.0 Cleft palate only Q35.1-Q35.9 Cleft lip only Q36.0-Q36.9 Cleft lip with cleft palate Q37.0-Q37.9 Gastrointestinal Defects Esophageal atresia/tracheoesophageal fistula Q39.0-Q39.4 Small intestinal atresia/stenosis Q41.0-Q41.9 Rectal/large intestinal atresia/stenosis Q42.0-Q42.9 Biliary atresia Q44.2-Q44.3 Genitourinary Defects Hypospadias Q54.0-Q54.3, Q54.5-Q54.9 Renal agenesis/hypoplasia Q60.0-Q60.6 Bladder exstrophy Q64.10, Q64.19 Cloacal exstrophy Q64.12 Congenital posterior urethral valves Q64.2 Musculoskeletal Defects Clubfoot Q66.0, Q66.89 Craniosynostosis Q75.0 Diaphragmatic hernia Q79.0 Gastroschisis Q79.3 Limb deficiencies Q71.0-Q71.9, Q72.0-Q72.9, Q73.0-Q73.8 Omphalocele Q79.2 Chromosomal Defects Deletion 22q11.2 Q93.81 Trisomy 21 (Down syndrome) Q90.0-Q90.9 Trisomy 18 Q91.0-Q91.3 Trisomy 13 Q91.4-Q91.7 Turner syndrome Q96.0-Q96.9 Pervasive Developmental Disorders F84.0-F84.9* (*abstractions completed up to age 8) Perinatal Substance Use Disorders Perinatal alcohol use/Fetal alcohol syndrome P04.3, Q86.0 Perinatal substance use/Neonatal abstinence syndrome P04.1, P04.14, P04.15, P04.16, P04.18, P04.19, P04.3 P04.40-P04.49, P04.81, P04.89, P04.9, P96.1

Targeted Conditions Requiring Medical Record Abstraction

Central Nervous System Anomalies Orofacial Anomalies Anencephaly Cleft lip and/or cleft palate Encephalocele Choanal atresia Spina bifida Holoprosencephaly Gastrointestinal Anomalies Hydrocephaly/ventriculomegaly Esophageal atresia/Tracheoesophageal fistula Microcephaly Rectal & large intestinal atresia/stenosis Arthrogryposis Small intestinal atresia/stenosis Intracranial calcifications Biliary atresia Cerebral/cortical atrophy Hirschsprung’s disease Abnormal cortical gyral patterns Pyloric stenosis Cerebellar abnormalities Porencephaly Genitourinary Anomalies Hydranencephaly Renal agenesis/hypoplasia Fetal brain disruption sequence Bladder exstrophy Other major brain abnormalities Hypospadias Epispadias Eye Anomalies Congenital posterior urethral valves Anophthalmia/microphthalmia Cloacal exstrophy Congenital cataracts Obstructive genitourinary defects Coloboma Optic nerve abnormalities Musculoskeletal Anomalies Chorioretinal atrophy, scarring, pigmentary changes, retinitis Gastroschisis Omphalocele Ear Anomalies Diaphragmatic hernia Anotia/microtia Limb reduction deformities Craniosynostosis Cardiovascular Anomalies Talipes equinovarus & other deformities of feet Aortic valve stenosis Congenital hip dislocation/developmental dysplasia of hips Atrial septal defect (does not include PFO) Atrioventricular septal defect Chromosomal Anomalies Coarctation of Aorta Trisomy 13, 18, 21 Common truncus Turner syndrome Double outlet right ventricle Deletion 22q11.2 Ebstein’s anomaly All other chromosomal anomalies Hypoplastic left heart syndrome Interrupted aortic arch Pervasive developmental disorders Patent ductus arteriosus (only if surgical intervention) Autism spectrum disorder Pulmonary valve atresia/stenosis Asperger syndrome Single ventricle Rett syndrome Tetralogy of Fallot All other pervasive developmental disorders Total (or partial) anomalous pulmonary venous return Transposition of great arteries/veins Perinatal substance exposures Tricuspid valve atresia/stenosis In utero substance exposures (alcohol, illicit drug, Rx drugs) Ventricular septal defect Fetal alcohol syndrome (FAS) Other major cardiovascular defects Neonatal abstinence syndrome (NAS)

For additional information, please visit: www.birthdefects.in.gov Updated 7/6/2018

Indiana State Department of Health Genomics and Newborn Screening Program

Instructions for Registration to the IBDPR Physician Reporting Portal

Note: These instructions are only valid for the IBDPR Physician Reporting Portal through the state health gateway. If you need access to INSTEP for newborn screening results, monthly summary reports etc. please email [email protected].

The IBDPR Physician Reporting Portal allows physicians, nurses, and other healthcare providers to directly report any reportable conditions from the IBDPR Reportable Conditions List to ISDH.

For New Users- Register for an account

1. Access the state health gateway by typing the following URL into your web browser: https://gateway.isdh.in.gov/Gateway/RegisterUser.aspx 2. Enter all required information in the fields 3. Enter the Physician Reporting security code which is, PHYR22DFX2 4. Choose your organization type and name 5. If you would like to receive an email confirming your registration with the state health gateway Physician Reporting Portal please click “Send me a confirmation email.” 6. When finished, click “Submit.”

You are now registered as a user within the State Health Gateway, and can log into the Gateway at any time by going to https://gateway.isdh.in.gov and logging in with your user name and password.

When you log into the Gateway after registering, you will see a “Physician Reporting” link at the top of your screen.

This link will be inactive until the Indiana State Department of Health verifies both the user and organization who registered for the account.

If the verification process takes longer than 24 hours, please send IBDPR a message via [email protected].

If any changes need to be made to your account (e.g., updating demographic information or your affiliated organization), edits can be made within the Gateway under the “My Profile”

RELIGIOUS WAIVER FOR THE NEWBORN ATTACH LABEL HERE OR SEND SCREENING PROGRAM State Form 54102 (R2 / 9-17) DEMOGRPHICS WITH WAIVER. INDIANA STATE DEPARTMENT OF HEALTH

I have been informed about the Newborn Screening Program for the State of Indiana and have received and read information about the screening tests required by law, but I choose to object to the following being done on my child for reasons pertaining to my religious beliefs: Hearing Screening (for hearing loss) Heelstick Screening (for metabolic and endocrine conditions, hemoglobinopathies, and cystic fibrosis) Pulse Oximetry (for critical congenital heart disease/defects)

Name of Child: ______Date of Birth: ___/____/_____ Mother’s Name: Date of Birth: ___/____/_____ Best Contact Number: ______Birth Facility/Midwife(ry): ______

Signature of Parent Date (month, day, year)

Signature of Witness Date (month, day, year)

Please use this form to report Newborn Hearing Screening and Pulse Oximetry when there is a Religious Refusal for the Heelstick Screening (in place of the NBS card).

Hearing Screening (for hearing loss) Pulse Oximetry (for critical congenital heart disease/defects)

st 1 Reading Initial Initial Date of Screen ___/___/___Time ______

Right Hand_____ Foot_____ Rescreen Rescreen Pass Did NOT Pass

Left Right 2nd Reading

Date of Screen ___/___/___Time ______

Date of Screen Date of Screen Right Hand_____ Foot______/___/______/___/___ Pass Did NOT Pass

rd 3 Reading

Results Results Date of Screen ___/___/___ Time ______ Pass Pass Right Hand_____ Foot_____ Refer Refer Pass Did NOT Pass

Risk Factors ECHOCARDIOGRAM

Yes Date of Screen ___/___/___Time ______

No Interpretation: ______

Send to ISDH NBS Follow-Up Care Coordinator: [email protected] Fax: (317) 234-2995

REQUEST FOR STORAGE OF DRIED BLOOD SPOT FOR MEDICAL RESEARCH PURPOSES State Form 55651 (8-14) / Form S

If you previously did not request that your/your baby’s dried blood spot be stored for medical research purposes, you can request that it be stored and saved for medical research purposes by completing and sending this form to Newborn Screening Program.

In order for the Indiana State Department of Health (ISDH) Newborn Screening Program to locate your/your son’s/daughter’s dried blood spot sample, certain pieces of information are needed.

Please fill out each of the lines below with the correct information for the person/child whose dried blood spot is being requested to be stored for medical research purposes.

 If you are requesting the storage of your own dried blood spot sample, please fill in your own information. Anyone who is at least eighteen (18) years old may request his/her own dried blood spot sample to be destroyed.  If you are requesting the storage of your son’s/daughter’s dried blood spot sample, then please insert your son’s/daughter’s information.

Name at birth: ______Date of birth (month, day, year):______

Location of birth (name of Indiana hospital/midwifery where you or your child was born):

______

Birth mother’s first name: ______Birth mother’s last name: ______

Birth mother’s maiden name: ______

Requestor Full Name: ______Requestor Telephone Number: (______)______

Requestor Relationship to child:______

Requestor Address: ______, ______, ______Street City State

Page 1 of 3

Purpose: Identification is required from an individual when submitting a Health Insurance Portability and Accountability (HIPAA) request regarding Protected Health Information (PHI). Below are the lists of acceptable identification that can be provided by the individual. Please provide a photocopy of one item from List A OR two items from List B with your request.

List A List B Provide photocopy of one (1) of the following If you cannot provide any items from List A, provide a items: photocopy of two (2) of the following items:

Valid Driver License Social Security Card Valid State Identification Stamped Social Security Print-out Work Identification with Signature Credit Card or Bank Card with Signature (backside only) Military Identification with Signature Motor Vehicle Registration (must be six (6) months old) – NO VEHICLE TITLES School Identification with Signature Valid Indiana Gun Permit Veterans Identification Card Rental Agreement/Lease (must be six (6) months old) Probation Identification Card Valid Professional License Passport State Agency Referral Employment Application (must be six (6) months old) – NO CHECK STUBS Employment Verification on Letterhead Library Card with Signature Previous Year Signed Tax Return – NO W2 STATEMENTS

Please sign and date the third page of this request form and fax or mail the entire completed copy to:

Genomics and Newborn Screening Program Indiana State Department of Health 2 North Meridian St., 2E Indianapolis, In 46204

Fax: (317) 234-2995

A letter of confirmation will be sent to the address listed on this request once the Newborn Screening Lab locates and stores your/your child’s dried blood spot sample. The Indiana State Department of Health does have regular destruction schedules. If your/your child’s dried blood spot has already been destroyed or it is not possible to store the dried blood spot due to its current condition, you will be notified by mail. If we have any questions regarding your request, we will contact you using the information you provided on this request. Please make sure all fields are completed in full.

If you have any questions about this form, please call the ISDH Genomics and Newborn Screening Program at (888) 815-0006.

Page 2 of 3 STORAGE AND USE OF NEWBORN SCREENING DRIED BLOOD SPOTS (DBS) Part of State Form 55651 (8-14) / Form S

NOTES:  Parent(s) or legal guardian(s) must indicate whether they accept or decline participation in research and sign bottom of form.  If participation is declined, child’s DBS will be destroyed after six (6) months in storage.  If participation is accepted, child’s DBS will be stored in freezer with humidity control and allowed to be used for research (samples will be de-identified for research use). Child’s DBS will be destroyed after three (3) years in storage.

You should have been given the brochure called “After Newborn Screening.” This brochure describes how your child’s blood sample from newborn screening (also called a dried blood spot, or DBS) could be used for medical research after newborn screening is complete. Please read this brochure. If you did not receive a copy, please ask your child’s nurse or primary care provider for one.

As your child’s parent(s) or legal guardian(s), you have the right to decide whether your child’s DBS will be used for medical research after newborn screening is complete. Please read the information below. Once you decide whether your child’s DBS can be used for medical research after newborn screening, check “YES” or “NO” and then sign the bottom of this form.

 It is important for parent(s)/guardian(s) to understand that participating in medical research is completely voluntary.  There is no penalty for declining to have your child’s DBS used for medical research after newborn screening.  If you agree to have your child’s DBS used for medical research now, but change your mind later, you can call the Indiana State Department of Health Newborn Screening Program and ask that your child’s DBS not be used for research.

I/we have read the brochure called “After Newborn Screening” and the information above. My/our decision about my/our child’s DBS is below. My/our permission applies to any and all blood spots collected for newborn screening.

YES. I/we agree that my/our child’s dried blood spot (DBS) can be used for medical research after newborn screening is complete. My/our child’s DBS will be stored for use in future medical research. My/our child’s DBS will be destroyed after three (3) years.

NO. I/we decline the use of my/our child’s dried blood spot (DBS) in medical research after newborn screening is complete. My/our child’s DBS will be destroyed after six (6) months.

If you have more questions about dried blood spots and medical research, please contact the Indiana State Department of Health Newborn Screening Program at (888) 815-0006.

______Parent / legal guardian signature Date (month, day, year)

Page 3 of 3

REQUEST FOR DESTRUCTION OF DRIED BLOOD SPOT State Form 55650 (8-14) / Form D

You may request that your/your baby’s dried blood spot sample be destroyed by completing and sending this form to the Newborn Screening Program. However, please keep in mind that no samples will be destroyed until the child has reached six (6) months of age in case additional testing related to newborn screening needs to be performed.

In order for the Indiana State Department of Health (ISDH) Newborn Screening Program to locate your/your son’s/daughter’s dried blood spot sample, certain pieces of information are needed.

Please fill out each of the lines below with the correct information for the person/child whose dried blood spot is being requested to be destroyed.

 If you are requesting the destruction of your own dried blood spot sample, please fill in your own information. Anyone who is at least eighteen (18) years old may request his/her own dried blood spot sample to be destroyed.  If you are requesting the destruction of your son’s/daughter’s dried blood spot sample, then please insert your son’s/daughter’s information.

Name at birth: ______Date of birth (month, day, year):______

Location of birth (name of Indiana hospital/midwifery where you or your child was born):

______

Birth mother’s first name: ______Birth mother’s last name: ______

Birth mother’s maiden name: ______

Requestor Full Name: ______Requestor Telephone Number: (______)______

Requestor Relationship to child:______

Requestor Address: ______, ______, ______Street City State

I, ______, request that my/my child’s (the child I have listed on this form) dried blood spot Print name here sample be destroyed and give permission to the Indiana State Department of Health and the Indiana University Newborn Screening Lab to complete this destruction.

______Individual or Parent/Legal Guardian Signature Date (month, day, year)

Page 1 of 2

List A List B Provide photocopy of one (1) of the following If you cannot provide any items from List A, provide a items: photocopy of two (2) of the following items:

A letter of confirmation will be sent to the address listed on this request once the destruction of your or your child’s dried blood spot has been completed. If we have any questions regarding your request, we will contact you using the information you provided on this request. Please make sure all fields are completed in full.

If you have any questions about this form, please call the ISDH Genomics and Newborn Screening Program at (888) 815-0006. Please fax this request to (317) 234-2995 or mail to:

Genomics and Newborn Screening Program Indiana State Department of Health 2 North Meridian St., 2E Indianapolis, In 46204

Page 2 of 2 Request for Genomics and Newborn Screening Information In order for the Genomics and Newborn Screening Program to process your request, certain pieces of information are required. If you have any questions, please call us at (888) 815 – 0006.

Please indicate the following request you are wanting processed for the indicated person below: o Newborn Screen Results o National Collegiate Athletic Association o Dried Blood Spot Specimen Punch Results will be provided for NBS Results and NCAA requests for all conditions that were on Indiana’s panel at the time of NBS. Dried Blood Spot Specimen Punches are for further genetic testing within 3 months and up to 3 years of the birth. • If you are requesting on behalf of yourself, please fill in your own information. Anyone who is at least 18 years old must request their own request. • If you are requesting on behalf of your child’s, please insert their information.

Name at Birth: ______

Date of Birth: ______

Location of Birth: ______Name of Indiana hospital/midwifery where you or your child was born.

Birth Mother’s First Name: ______

Birth Mother’s Last Name: ______

Please return this form, along with the Health Information Access Request form to: Privacy Officer, Office of Legal Affairs Indiana State Department of Health 2 North Meridian Street Indianapolis, IN 46204 OR [email protected] HEALTH INFORMATION ACCESS REQUEST CONFIDENTIAL INFORMATION State Form (R / 10-11) per 45 CFR 164.524 Approved by State Board of Accounts, 2011

INSTRUCTIONS: Send Completed Form and Photocopy of Identification to: Office of Legal Affairs Indiana State Department of Health 2 North Meridian Street Indianapolis, Indiana 46204

Purpose: This form is used for an individual’s request to inspect and/or obtain copies of the individual’s protected health information or records in our designated record sets or the designated record sets of our business associates.

SECTION A: Participant Information. Name:

Address (number and street, city, state, and ZIP code):

Telephone: Date of Birth (month/day/year): Social Security Number: The Social Security number is being requested by this state agency to pursue its statutory responsibilities. Disclosure is voluntary and you will not be penalized for refusal.

SECTION B: Information of Person to Whom Records Are to Be Released. Name of Person or Provider:

Address (number and street, city, state, and ZIP code): Telephone: ______

SECTION C: To the Participant—Please read the following and complete the information requested. You have the right to inspect and obtain a copy of your protected health information in designated record sets we or our business associates maintain. You are not, however, entitled to inspect or obtain a copy of any psychotherapy notes we may have, any information we may have compiled in anticipation of or for use in any civil, criminal or administrative action or proceeding, any information not subject to disclosure to you under the Clinical Laboratory Improvements Amendments of 1988 (42 U.S.C. § 263a), and certain other records. To exercise your right of access, please complete this Section B. Please specify the records you wish to inspect or obtain copies of: Breast & Cervical Cancer Children’s Special Health Care Services Hemophilia HIV Medical Services Indiana Lead and Healthy Homes Program Genomics/Newborn Screening

Do you wish to: Inspect these records? Obtain copies of these records? Release these records to another person or medical practice?

We will charge you $0.10 per side, per page to copy these records, if the total number of pages is over 100. Do you want us to mail the copies? Yes No Please provide a brief description of the reason you want this information released: ______

Please describe the information you want released from your health record: ______

Page 1 of 3 AUTHORIZATION: I understand that once the authorized information has been disclosed, it may not longer be protected by the HIPAA Privacy Rule. I understand that the covered entity seeking this authorization may not condition treatment, payment, enrollment in the health plan, or eligibility for benefits on whether I sign the authorization. I may revoke this authorization at any time, in writing, except to the extent that action has been taken in reliance on this request. Written revocation will be effective upon receipt by the Privacy Officer. Without my express revocation, this request will automatically expire: (1) upon satisfaction of need for disclosure; (2) on _____/_____/______(month/day/year); or (3) upon satisfaction of the following condition: ______SIGNATURE OF PATIENT:

Date (month/day/year): If this request is by a personal representative on behalf of the participant, complete the following: Personal Representative’s Name:

Relationship to Participant: Date of Birth (month/day/year):

Address (number and street, city, state, and ZIP code): Telephone: Social Security Number:

The Social Security number is being requested by this state agency to pursue its statutory responsibilities. Disclosure is voluntary and you will not be penalized for refusal. YOU ARE ENTITLED TO A COPY OF THIS REQUEST. Send to: Privacy Officer, Office of Legal Affairs Indiana State Department of Health 2 North Meridian Street Indianapolis, IN 46204

List A List B Provide photocopy of one (1) of the If you cannot provide any items from List A, provide a following items: photocopy of two (2) of the following items:

Valid Driver License Social Security Card Valid State ID Stamped Social Security Print-out Work ID with Signature Credit Card or Bank Card with Signature (backside only) Military ID with Signature Motor Vehicle Registration (must be six (6) months old) – NO VEHICLE TITLES School ID with Signature Valid Indiana Gun Permit Veterans ID Card Rental Agreement/Lease (must be six (6) months old) Probation ID Card Valid Professional License Passport State Agency Referral Employment Application (must be six (6) months old) – NO CHECK STUBS Employment Verification on Letterhead Library Card with Signature Previous Year Signed Tax Return – NO W2 STATEMENTS

Page 2 of 3 SECTION D: Access Request Processing—To be completed by Privacy Officer.

We must respond to an access request within thirty (30) days of its receipt, unless the requested records are off-site. We then have sixty (60) days to respond.

Date access request received: ____/____/____ Date transmitted to Privacy Officer: ____/____/____

Appropriate Identification was received: ____/____/____

Date appropriate Provider departments and business associates directed to search for requested records: ____/____/____ Use Direction to Retrieve Records page to notify Provider departments and business associates.

Provider’s departments directed to search their designated record sets for the requested records:

Business associates directed to search their designated record sets for the requested records:

Extension of response date:

We may take one thirty (30) day extension of our response date by notifying the requester within the original thirty (30) or sixty (60) day response period of the reason for the extension and the date on which we will provide our response.

Extension notice sent on: ____/____/____ Response date promised in extension notice: ____/____/____

Reason given for extension:

SECTION E: Response to Access Request—To be completed by Privacy Officer.

Access denied on ____/____/____ by transmittal of Denial of Access to Records to the individual. Individual requested review of licensed professional’s determination on ____/____/____. Attach sheet explaining disposition. Individual lodged complaint on ____/____/____. See the COMPLAINT form for nature of complaint and its disposition.

Access granted on ____/____/____ by transmittal of Grant of Access to Records to the individual. Records inspected: ____/____/____ Copies supplied: ____/____/____ Charges: $______Paid: ____/____/____ Summary or explanation provided: ____/____/____ Charges: $______Paid: ____/____/____

SIGNATURE I attest that the above information is correct.

Signature: Date (month/day/year):

Print name: Title:

Page 3 of 3 EXENCIÓN RELIGIOSA PARA EL COLOQUE LA ETIQUETA AQUÍ O PROGRAMA DE EXÁMENES PARA EL ENVÍE LOS DATOS DEMOGRÁFICOS RECIÉN NACIDO CON LA EXENCIÓN. Formulario Estatal 54102 (R2 / 9-17) DEPARTAMENTO DE SALUD DEL ESTADO DE INDIANA

Se me ha informado sobre el Programa de exámenes para el recién nacido del Estado de Indiana y he recibido y leído la información sobre las pruebas que la ley exige; sin embargo, decido objetar que se le realice lo siguiente a mi hijo por motivos relacionados con mis creencias religiosas:

Exámenes auditivos (para detectar pérdida de la audición)

Exámenes con punción en el talón (para detectar condiciones metabólicas y endocrinas, enfermedades relacionadas con la hemoglobina y fibrosis quística)

Oximetría del pulso (para detectar enfermedades o defectos congénitos del corazón)

Nombre del niño: Fecha de nacimiento: / / Nombre de la madre: Fecha de nacimiento: / / Número de contacto principal: Centro/lugar de cuidados de obstetricia del parto:

Firma del padre/madre Fecha (día, mes, año)

Firma del testigo Fecha (día, mes, año)

Use este formulario para informar sobre los exámenes de audición y la oximetría de pulso para el recién nacido cuando haya un rechazo por motivos religiosos para la realización del examen de punción del talón (en lugar de la tarjeta NBS)

Exámenes auditivos (para detectar pérdida de la audición) Oximetría del pulso (para detectar enfermedades/defectos congénitos del corazón)

1ª Lectura

Inicial Inicial Fecha del examen / / Hora

Mano derecha Pie Nuevo Nuevo □ Aprueba □ NO aprobó examen examen 2ª lectura

Izquierdo Derecho Fecha del examen / / Hora

Fecha del examen Fecha del examen Mano derecha Pie □ Aprueba □ NO aprobó / / / / 3ª lectura

Resultados Resultados Fecha del examen / / Hora □ Aprueba □ Aprueba □ Se deriva □ Se deriva Mano derecha Pie □ Aprueba □ NO aprobó Factores de riesgo ECOCARDIOGRAMA □ Sí Fecha del examen / / Hora □ No Interpretación:

Enviar al Coordinador de cuidados de seguimiento del recién nacido del ISDH (ISDH NBS Follow-Up Care Coordinator): [email protected] Fax: (317) 234-2995

SOLICITUD PARA CONSERVAR MUESTRAS DE SANGRE SECA CON FINES DE INVESTIGACIÓN MÉDICA Formulario estatal 55651 (8-14) / Form. S

Si anteriormente no solicitó que, sus muestras de manchas de sangre seca o las de su bebé se conserven con fines de investigación médica, usted puede solicitar que se almacenen y se guarden con fines de investigación médica completando y enviando este formulario al Programa de exámenes para el recién nacido.

Con el fin de que el Programa de exámenes para el recién nacido del Departamento de Salud del Estado de Indiana (ISDH) encuentre las muestras de manchas de sangre seca de su hijo recién nacido o del hijo recién nacido de su hijo o hija, se necesita que facilite cierta información.

Rellene todos los espacios siguientes con la información correcta de la persona/niño para la/el cual solicita que se le almacenen las muestras de sangre seca con fines de investigación médica.

 Si usted solicita que se conserven sus muestras de manchas de sangre seca, llene los espacios con su información. Puede solicitar la conservación de sus muestras de manchas de sangre seca, toda persona que tenga como mínimo dieciocho (18) años de edad.  Si usted solicita la conservación de las muestras de manchas de sangre seca de su hijo o hija, coloque la información sobre su hijo o hija.

Nombre de nacimiento: Fecha de nacimiento (día, mes, año):

Lugar de nacimiento (nombre del hospital/centro de cuidados de obstetricia de Indiana donde nació usted o su hijo):

Nombre de la madre biológica: Apellido de la madre biológica:

Apellido de soltera de la madre biológica:

Nombre completo del solicitante: Número de teléfono del solicitante: ( _)_

Relación del solicitante con el niño:

Dirección del solicitante: _, , Calle Ciudad Estado

Página 1 de 3 Objetivo: Se requiere la identificación de la persona al momento de presentar una solicitud relacionada con la Ley de responsabilidad y portabilidad de los seguros de salud (HIPAA) con respecto a la información médica protegida (PHI). A continuación, se detallan las identificaciones aceptadas que puede presentar esta persona. Entregue una fotocopia de un documento de la Lista A O dos documentos de la Lista B con su solicitud.

Lista Lista Entregue una fotocopia Ade uno (1) de los Si no puede entregar ningún documentoB de la Lista A, siguientes documentos: entregue una fotocopia de dos (2) de los siguientes documentos: Licencia válida de conducir Tarjeta del Seguro Social Identificación estatal válida Impresión sellada del Seguro Social Identificación laboral con firma Tarjeta de crédito o bancaria con firma (solo del dorso) Identificación militar con firma Registro del vehículo con motor (debe tener seis (6) meses de antigüedad). NO SE PERMITEN TÍTULOS DE VEHÍCULOS Identificación escolar con firma Permiso válido de portación de armas de Indiana Tarjeta de identificación de veterano de guerra Contrato de alquiler/arrendamiento (debe tener seis (6) meses de Tarjeta de identificación de libertad condicional Licenciaantigüedad) válida de profesional Pasaporte Referencia de una agencia del estado Solicitud de empleo (debe tener seis (6) meses de antigüedad) NO SE PERMITEN RECIBOS DE SUELDO Verificación de empleo con membrete Tarjeta de la biblioteca con firma Declaración jurada de impuestos firmada del año anterior. NO SE PERMITEN DECLARACIONES DEL FORMULARIO W2 Firme y coloque la fecha en la tercera página de este formulario de solicitud y envíelo por fax o correo postal la copia con todos los datos completos a:

Departamento de Genómica y Programa de exámenes para el recién nacido Departamento de Salud del Estado de Indiana 2 North Meridian St., 2E Indianapolis, In 46204

Fax: (317) 234-2995

Se enviará una carta de confirmación a la dirección detallada en esta solicitud una vez que el Laboratorio de exámenes para el recién nacido encuentre y almacene las muestras de sus manchas de sangre seca o las de su hijo. El Departamento de Salud del Estado de Indiana tiene cronogramas regulares de destrucción de muestras. Si sus muestras de manchas de sangre seca o las de su hijo ya se han destruido o no es posible conservar la muestra de sangre seca por su estado actual, se lo avisaremos por correo. Si tenemos alguna pregunta relacionada con su solicitud, nos comunicaremos con usted usando la información que detalló en esta solicitud. Asegúrese de que todos los campos se completen en su totalidad.

Si tiene alguna consulta sobre este formulario, llame al Departamento de Genómica y Programa de exámenes para el recién nacido del ISDH al (888) 815-0006.

Página 2 de 3 CONSERVACIÓN Y USO DE LAS MANCHAS DE SANGRE SECA (DBS) EN LOS EXÁMENES PARA EL RECIÉN NACIDO Parte del Formulario estatal 55651 (8-14) / Form. S

NOTAS:  El padre/madre o tutor legal debe indicar si acepta o rechaza participar en la investigación y firmar al final del formulario.  Si se rechaza participar, las DBS del niño se destruirán después de estar almacenadas seis (6) meses.  Si se acepta participar, las DBS del niño se conservarán en un congelador con control de humedad y se podrán usar para investigaciones (las muestras no tendrán identificación para el uso en investigaciones). Las DBS se destruirán después de estar almacenadas tres (3) años.

Le deben haber entregado el folleto llamado “Después de los exámenes para el recién nacido”. Este folleto describe cómo las muestras de sangre de su hijo provenientes de los exámenes para el recién nacido (que también se llaman manchas de sangre secas o DBS, por sus siglas en inglés) podrían usarse después de que se terminen los exámenes para el recién nacido. Le pedimos que lea este folleto. Si no recibió una copia, pídasela a la enfermera o al proveedor de cuidados primarios de su hijo.

Como padre/madre o tutor legal del niño, usted tiene el derecho a decidir si se usarán o no las DBS de su hijo para investigaciones médicas después de que se terminen los exámenes para el recién nacido. Lea la siguiente información. Una vez que decida si se pueden o no usar las DBS de su hijo para investigaciones médicas después de los exámenes para el recién nacido, marque “SÍ” o “NO” y firme al final de este formulario.

 Es importante que el padre/madre o tutor comprenda que participar en una investigación médica es totalmente voluntario.  No hay sanciones por rechazar que se haga uso de las DBS de su hijo para investigaciones médicas después de los exámenes para el recién nacido.  Si acepta que en este momento se usen las DBS de su hijo para investigaciones médicas, pero después cambia de opinión, puede usted llamar al Programa de exámenes para el recién nacido del Departamento de Salud del Estado de Indiana y pedir que no se usen las DBS de su hijo para investigaciones.

He/hemos leído el folleto llamado “Después de los exámenes para el recién nacido” y la información anterior. Mi/nuestra decisión sobre mis DBS o las DBS de su hijo se detalla a continuación. Mi/nuestra autorización se aplica a todas las muestras de sangre recolectadas para los exámenes para el recién nacido.

SÍ. Acepto/aceptamos que mis/las muestras de las manchas de sangre seca (DBS) de mi/nuestro hijo puedan usarse con fines de investigación médica después de que se terminen los exámenes para el recién nacido. Mis/las DBS de mi/nuestro hijo se conservarán para usarse en investigaciones médicas futuras. Mis/las DBS de mi/nuestro hijo se destruirán después de tres (3) años.

NO. Rechazo/rechazamos que se usen mis/las muestras de manchas de sangre seca (DBS) de mi/nuestro hijo en investigaciones médicas después de que terminen los exámenes para el recién nacido. Mis/las DBS de mi/nuestro hijo se destruirán después de seis (6) meses.

Si tiene más preguntas sobre las muestras de sangre seca y las investigaciones médicas, comuníquese con el Programa de exámenes para el recién nacido del Departamento de Salud del Estado de Indiana al (888) 815-0006.

Firma del padre/madre/tutor legal Fecha (día, mes, año)

Página 3 de 3

SOLICITUD DE DESTRUCCIÓN DE MUESTRAS DE SANGRE SECA Formulario estatal 55650 (8-14) / Form. D

Usted puede solicitar que las muestras de manchas de sangre seca de su bebé se destruyan completando y enviando este formulario al Programa de exámenes para el recién nacido. Sin embargo, tenga en cuenta que no se destruirá ninguna muestra hasta que el niño haya cumplido los seis (6) meses de vida, en caso de que se deban realizar pruebas adicionales relacionadas con los exámenes para el recién nacido.

Rellene todos los espacios siguientes con la información correcta de la persona/niño para la/el cual se solicita que se destruyan las muestras de sangre seca.

• Si usted solicita la destrucción de las muestras de manchas de sangre seca de su hijo recién nacido, llene los espacios con su información. Puede solicitar la destrucción de sus muestras de manchas de sangre seca, toda persona que tenga como mínimo dieciocho (18) años de edad. • Si usted solicita la destrucción de las muestras de manchas de sangre seca para el hijo recién nacido de su hijo o hija, ingrese la información sobre su hijo o hija.

Nombre de nacimiento: Fecha de nacimiento (día, mes, año):

Lugar de nacimiento (nombre del hospital/centro de cuidados de obstetricia de Indiana donde nació usted o su hijo):

Nombre de la madre biológica: Apellido de la madre biológica:

Apellido de soltera de la madre biológica:

Nombre completo del solicitante: Número de teléfono del solicitante: (_ )

Relación del solicitante con el niño:

Dirección del solicitante: , , Calle Ciudad Estado

Yo, , solicito que mis muestras de manchas de sangre seca o las de mi hijo (el niño que detallo nombre en imprenta aquí en este formulario) se destruyan y autorizo al Departamento de Salud del Estado de Indiana y al Laboratorio de exámenes para el recién nacido de la Universidad de Indiana a que realice tal destrucción.

Firma de la persona o padre/madre/tutor legal Fecha (día, mes, año)

Página 1 de 2 Objetivo: Se requiere la identificación de la persona al momento de presentar una solicitud relacionada con la Ley de responsabilidad y portabilidad de los seguros de salud (HIPAA) con respecto a la información médica protegida (PHI). A continuación, se detallan las identificaciones aceptadas que puede presentar esta persona. Entregue una fotocopia de un documento de la Lista A O dos documentos de la Lista B con su solicitud.

Lista Lista Entregue una fotocopia de uno (1) de los Si no puede entregar ningún documento de la Lista A, entregue siguientes documentos: una fotocopia de dos (2) de los siguientes documentos:

Licencia válida de conducir Tarjeta del Seguro Social Identificación estatal válida Impresión sellada del Seguro Social Identificación laboral con firma Tarjeta de crédito o bancaria con firma (solo del dorso) Identificación militar con firma Registro del vehículo con motor (debe tener seis (6) meses de antigüedad). NO SE PERMITEN TÍTULOS DE VEHÍCULOS Identificación escolar con firma Permiso válido de portación de armas de Indiana Tarjeta de identificación de veterano de guerra Contrato de alquiler/arrendamiento (debe tener seis (6) meses de antigüedad) Tarjeta de identificación de libertad condicional Licencia válida de profesional Pasaporte Referencia de una agencia del estado Solicitud de empleo (debe tener seis (6) meses de antigüedad) NO SE PERMITEN RECIBOS DE SUELDO Verificación de empleo con membrete Tarjeta de la biblioteca con firma Declaración jurada de impuestos firmada del año anterior. NO SE PERMITEN DECLARACIONES DEL FORMULARIO W2

Se enviará una carta de confirmación a la dirección detallada en esta solicitud una vez que se haya realizado la destrucción de las muestras de sus manchas de sangre seca o las de su hijo. Si tenemos alguna pregunta relacionada con su solicitud, nos comunicaremos con usted usando la información que detalló en esta solicitud. Asegúrese de que todos los campos se completen en su totalidad.

Si tiene alguna consulta sobre este formulario, llame al Departamento de Genómica y Programa de exámenes para el recién nacido del ISDH al (888) 815-0006. Envíe por fax esta solicitud al (317) 234-2995 o por correo postal al:

Departamento de Genómica y Programa de exámenes para el recién nacido Departamento de Salud del Estado de Indiana 2 North Meridian St., 2E Indianapolis, In 46204

Página 2 de 2

Solicitud de información Genómica y Evaluación del Recién Nacido. Con el fin de que el Programa Genómico y Evaluación del Recién Nacido procese su solicitud, cierta información es requerida. Si tiene alguna pregunta, por favor llámenos al (888) 815-0006. Por favor indique cuál de las siguientes solicitudes es la que usted quiere que sea procesada para la persona mencionada en la parte inferior.

o Resultados de la evaluación del recién nacido o Asociación Nacional Atlética Colegial o Muestra de sangre seca

Los resultados serán entregados a NBS Results y la NCAA solicitará todas las condiciones del panel de Indiana en el momento de la evaluación del recién nacido. Las Muestras de Sangre Seca se tomarán para futuras pruebas genéticas dentro de los tres meses a tres años de nacido

 Si usted está haciendo la solicitud a nombre suyo, por favor llénela con su propia información. Cualquiera que tenga por lo menos 18 años de edad debe pedir su propia solicitud.  Si usted está haciendo la solicitud a nombre de su niño/niña, por favor ingrese la información de él/ella.

Nombre de Nacimiento: ______Fecha de Nacimiento: ______Lugar de Nacimiento: ______Nombre del hospital o Centro de Parto en Indiana donde nació usted o su bebe.

Nombre de nacimiento de la madre: ______Apellido de nacimiento de la madre: ______

Por favor regrese este formulario junto con la Solicitud de Acceso a la Información Médica al: Funcionario Confidencial, Oficina de Asuntos Jurídicos Indiana State Department of Health 2 North Meridian Street Indianapolis, IN 46204

O visite la página web:

[email protected]

SOLICITUD DE ACCESO A LA INFORMACIÓN CONFIDENCIAL INFORMACIÓN MÉDICA s/ art. 45 CFR 164.524 Formulario Estatal (R/ 10-11) Aprobado por la Junta de Cuentas del Estado, 2011

INSTRUCCIONES: Envíe este formulario completo y la fotocopia de identificación a: Office of Legal Affairs Indiana State Department of Health 2 North Meridian Street Indianápolis, IN 46204

Objetivo: Este formulario se utiliza para que una persona solicite examinar u obtener copias de la información médica protegida o registros de la persona que se encuentran en nuestros conjuntos de registros designados o en los de nuestros colaboradores.

SECCIÓN A: Información del participante

Nombre: Dirección: (número y calle, ciudad, estado y CP): Teléfono: Fecha de nacimiento (día, mes, año): Número del Seguro Social: Esta agencia estatal solicita el número del Seguro Social para aplicar sus responsabilidades legales. La divulgación es voluntaria y usted no tendrá sanciones por negarse a hacerlo.

SECCIÓN B: Información de la persona a la que se le entregarán los registros- Nombre de la persona o proveedor:

Dirección (número y calle, ciudad, estado y CP): Teléfono:

SECCIÓN C: Para el participante: lea lo siguiente y complete la información solicitada.

Usted tiene el derecho a examinar y obtener una copia de su información médica protegida en los conjuntos de registros designados que conservamos nosotros o nuestros colaboradores. Sin embargo, usted no tiene derecho a examinar ni obtener una copia de las notas de psicoterapia que podamos tener, ninguna información que podríamos haber compilado con anticipación o para uso en una acción o procedimiento civil, penal o administrativa, ninguna información que no esté sujeta a la divulgación que se le hace según las Modificaciones de las Mejoras de los Laboratorios Clínicos de 1988 (Código de los Estados Unidos, Art. 42, § 263a) y demás registros determinados. Para ejercer su derecho de acceso, complete esta Sección B.

Especifique los registros que desea examinar o de los que obtener copias:

Cáncer de pecho o de cuello de útero Servicios de cuidados infantiles especiales para la salud Hemofilia

Servicios Médicos de VIH Programa Indiana Lead and Healthy Homes Genómica/Exámenes para el recién nacido

¿Qué desea hacer?: Examinar estos registros Obtener copias de estos registros

Entregar estos registros a otra persona o consultorio médico

Le cobraremos $0,10 por carilla, por página, para copiar estos registros, si la cantidad total de páginas es mayor a 100. ¿Desea que le enviemos las copias por correo postal? Sí No

Describa brevemente el motivo por el que desea que se divulgue esta información:

Describa la información que desea divulgar de su registro médico:

Página 1 de 4 AUTORIZACIÓN: Entiendo que, una vez que se haya divulgado la información autorizada, es posible que ya no quede protegida por la Norma de privacidad de la ley HIPAA. Entiendo que la entidad cubierta que solicita esta autorización no puede condicionar el tratamiento, pago, inscripción en el plan de salud ni la elegibilidad para recibir beneficios, ya sea que firme o no la autorización. Podré revocar esta autorización en cualquier momento de forma escrita, excepto en la medida en que se haya tomado una medida en función de esta solicitud. La revocación escrita tendrá vigencia al momento en que el Encargado de Privacidad la reciba. Esta solicitud caducará automáticamente sin mi revocación expresa. (1) se cumple la necesidad de divulgación; (2) el día / / (día/mes/año); o (3) se cumple la siguiente condición:

FIRMA DEL PACIENTE:

Fecha (día, mes, año) Si esta solicitud se hace mediante un representante personal a nombre del participante, complete lo siguiente: Nombre del representante personal: Relación con el participante: Fecha de nacimiento (día, mes, año): Dirección (número y calle, ciudad, estado y CP): Teléfono: Número del Seguro Social:

Esta agencia estatal solicita el número del Seguro Social para aplicar sus responsabilidades legales. La divulgación es voluntaria y usted no tendrá sanciones por negarse a hacerlo.

USTED TIENE DERECHO A TENER UNA COPIA DE ESTA SOLICITUD.

Envíela a: Encargado de privacidad, Oficina de Asuntos Legales Departamento de Salud del Estado de Indiana 2 North Meridian Street Indianápolis, IN 46204

Objetivo: Se requiere la identificación de la persona al momento de presentar una solicitud relacionada con la Ley de responsabilidad y portabilidad de los seguros de salud (HIPAA) con respecto a la información médica protegida (PHI). A continuación, se detallan las identificaciones aceptadas que puede presentar esta persona. Entregue una fotocopia de un documento de la Lista A O dos documentos de la Lista B con su solicitud.

Lista A Lista B Entregue una fotocopia de uno (1) de los Si no puede entregar ningún documento de la Lista A, entregue una siguientes documentos: fotocopia de dos (2) de los siguientes documentos:

Tarjeta de identificación de libertad condicional Licencia válida de profesional

Pasaporte Referencia de una agencia del estado Solicitud de empleo (debe tener seis (6) meses de antigüedad) NO SE PERMITEN RECIBOS DE SUELDO Verificación de empleo con membrete Tarjeta de la biblioteca con firma Declaración jurada de impuestos firmada del año anterior. NO SE PERMITEN DECLARACIONES DEL FORMULARIO W2

Página 2 de 4 SECCIÓN D: Procesamiento de la solicitud de acceso a la información: debe completarlo el Encargado de privacidad.

Debemos dar respuesta a una solicitud de acceso a la información en treinta días (30) tras recibir tal solicitud, a menos que los registros solicitados no se encuentren en nuestras instalaciones. En ese caso, tenemos sesenta (60) días para dar una respuesta.

Fecha de recepción de la solicitud de acceso a Fecha de comunicación al Encargado de privacidad: la información: / / / /

La identificación apropiada se recibió el día: / /

Fecha en que se dio la orden de buscar los registros solicitados a los departamentos de los proveedores y colaboradores correspondientes: / / Utilice la dirección para recuperar la página de registros y avisar a los departamentos del proveedor y a los colaboradores.

Los departamentos del proveedor recibieron la orden de buscar los conjuntos de registros designados para encontrar los registros solicitados:

Los colaboradores recibieron la orden de buscar los conjuntos de registros designados para encontrar los registros solicitados:

Extensión de la fecha de respuesta:

Podremos tomarnos una extensión de treinta (30) días de la fecha que tenemos para dar una respuesta avisando al solicitante durante los primeros treinta (30) días o sesenta (60) días del plazo de respuesta del motivo de la extensión y la fecha en que le daremos una respuesta.

Aviso de extensión enviado el día: Fecha de respuesta comprometida en el aviso de extensión: ______/_____/______/_____/____

Motivo dado para la extensión:

SECCIÓN E: Respuesta a la solicitud de acceso a la información: debe completarla el Encargado de privacidad.

Acceso rechazado el día / / mediante la comunicación del rechazo del acceso a los registros de la persona.

La persona solicitó la revisión de la decisión de un profesional con matrícula el día . / / . Adjunte una hoja explicando la resolución.

La persona presentó un reclamo / / . Consulte el formulario RECLAMO para conocer la naturaleza del reclamo y su resolución.

Acceso concedido el día / / mediante la comunicación del Permiso de acceso a los registros de la persona.

Registros examinados el día: _ / /

Copias suministradas: / / Recargos: $ Pagado: / /

Resumen o explicación que se dio: / / Recargos: $ Pagado: / /

Página 3 de 4

FIRMA

Afirmo que la información anterior es correcta.

Firma: Fecha (día/mes/año):

Nombre en letra de imprenta: Cargo:

Página 4 de 4

Indiana State Department of Health

Genomics and Newborn Screening Program

GNBS TECHNIQUE REFERENCES HEARING SCREEN

HEALTHY NEWBORN: After six (6) hours of age AND prior to discharge o Screening may occur twice (max) for inpatients. SPECIAL CASES: Prior to Transfer/Discharge o Preterm babies who stay in nursery greater than five (5) days should have screen when medically stable, but prior to discharge. o Babies who reside greater than five (5) days in NICU should have screen as recommended by the department. o Inpatient testing should be made available to long stay babies. PROCEDURE  Screening may occur twice (max) as inpatients.  Both ears screened each time.  Both ears must pass on the same screen.  If both ears do not pass either screen, refer immediately for diagnostic hearing evaluation.

Submit results to ISDH GNBS via pink slip (hearing copy) when not completed with the heelstick or use RR form when heelstick refused or when pink sleep is unavailable.

REFER TO THE EHDI MANUAL OR CONTACT THE EHDI PROGRAM FOR FURTHER INFORMATION

Indiana State Department of Health Genomics and Newborn Screening Program GNBS TECHNIQUE REFERENCES PULSE OXIMETRY

HEALTHY NEWBORN: Between 24-48 hours of birth o MUST be after 24 hours due to: . Earlier screening leads to false positives . Must allow time for systemic oxygen levels to stabilize o SHOULD be before 48 hours because . Ductus arteriosus closes after this . Interventions can be made SPECIAL CASES: Prior to Transfer/Discharge, CCHD Detected, NICU, Initial Screen Next Month, RR, Prenatally/Postnatally Diagnosed with CCHD, Did not Pass, and Referred for Additional Follow-Up. PROCEDURE  Infant should be awake, calm and warm  Right hand and one of the infant’s feet  PASS = 95% of higher FAIL = Less than 95% OR a difference greater than 3% in both right hand and foot (if above 95% and a difference greater than 3%, this is a FAIL)

Please refer to your GNBS: Pulse Oximetry quick reference card. Submit results to ISDH GNBS via pink slip (hearing copy) when not completed with the heelstick or use RR form when heelstick refused or when pink sleep is unavailable. Ensure your facility is reporting to the IBDPR. See IBDPR list of reportable conditions.

Indiana State Department of Health Genomics and Newborn Screening Program GNBS TECHNIQUE REFERENCES HEELSTICK

Healthy Newborn: 24 hours after birth o Prior to discharge/transfer 1. Keep baby calm & warm the heel for 3-5  Special Cases: Transfusion and NICU minutes prior to the 3. Puncture heel, o Pre-transfusion: stick. wipe away first . Collect before transfusion blood drop with 2. Cleanse site with gauze. o Post-transfusion: alcohol prep, wipe dry with sterile gauze 4. Allow another . Collect prior to 6 days after birth LARGE blood drop to form. Collect on . Collect final specimen 2-4 months filter paper. post last transfusion 5. Allow blood to o soak through <2,000 grams completely and . 24 hours after birth fill each circle. . 6 days 6. Let dry 4 hours before . 14 days mailing. . 30 days Monthly thereafter until discharge or 3 months of age, whichever comes first. Quality Heelstick Procedure

Please refer to your quick reference cards for best practices and procedures. Indiana State Department of Health Genomics and Newborn Screening Program PRESUMPTIVE/ABNORMAL HEELSTICK RESULTS PROTOCOL

While false positives can occur on either the initial or a rescreen, it is imperative to take immediate action when heelstick results are presumptive positive/abnormal in order to ensure best outcomes for the infant.

PRESUMPTIVE PROMPT POSITIVE/ FOLLOW-UP ABNORMAL CARE UPON RESULTS NOTIFACTION RECIEVED FROM FROM NBS NBS LAB Lab

NOTIFICATION • Notified of heelstick results within a timely manner • Assistance given with ISDH GNBS/NBS Lab for follow-up purposes (most recent PCP, hospital status, ect.)* FOLLOW-UP CARE • Case specific re-screen and confirmatory testing needs to occur per NBS Lab and condition specific grantee recommendations • See most current grantee information in the Toolkit DOCUMENTATION • Results documented in your facilites NBS log • Any follow-up concerns and or roadbloack noted and reported to ISDH GNBS as needed

*If the infant is still in your facilities care, has been discharged home, or has been transferred to another facility, ensure to disclose this information to ISDH GNBS/NBS Lab to aid in follow-up needs such as confirmatory testing and condition specific grantee assistance for the family.

Please refer to any recommendations provided to you by the NBS Lab within the results. For any questions regarding lab results, please contact us at 888.815.0006 Indiana State Department of Health Genomics and Newborn Screening Program Invalid Heelstick Results Protocol

NOTE: For the well-being of the child, it is imperative to acquire the rescreen and without further delay, repeat the collection of specimen within five (5) business days of initial screen.

TAKE ACTION IN CORRECTING HEELSTICK COLLECTION TECHNIQUE TO AVOID FUTURE INVALID SCREENS DUE TO QUALITY AND OR TIMELINESS

Please refer to any recommendations provided to you by the NBS Lab within the results. For any questions regarding lab results, please contact us at 888.815.0006

Indiana State Department of Health Genomics and Newborn Screening Program SPECIAL CASES PROTOCOL FOR PULSE OXIMETRY AND HEELSTICK

Current Indiana Rule suggests a six (6) day timeline to obtain the heelstick for NICU and other special cases but it is imperative to remember that it is Best Practice to obtain the heelstick twenty-four (24) hours after birth, pre transfusion, as well as prior to discharge/transferring out of your facility.

6 days* SCREEN SCREEN PRIOR TO PRE- 14 ALL DISCHARGE TRANSFUSION days TRANFER OR HEELSTICK IN INFANTS 30 TRANSFER days**

Never assume the recieving Obtaining the heelstick prior hospital will complete the <2,000 grams/NICU & to transfusion is critical in screen or that the initial Special Cases ensuring we are able to screen was sufficient unless **Continue testing monthly detect and intervene in a results are supportive. until disharge or 3 mothns timely manner. Recieving hospitals should of age. Follow routine verify valid NBS has occured rescreening guidlines prior to disharging home. hereafter.  TPN or Amino Acid/Carnitine enhanced formula: follow routine testing guidelines  If discharge occurs within six (6) days of the second or third heelstick, it is not necessary to rescreen at discharge unless otherwise noted

PULSE OXIMETRY SCREEN or its replacement screen (echocardiogram) must be documented and any failed or IBDPR confirmed conditions must be reported to ISDH GNBS for follow-up and documentation purposes.

FAILED PULSE OXIMETRY FURTHER EVALUATION AND CARE DOCUMENT AND REPORT

Please refer to any recommendations provided to you by the NBS Lab within the results. For any questions regarding lab results, please contact us at 888.815.0006

Hospital/Birthing Facility Policy Manual

for

Universal Newborn Hearing Screening (UNHS)

Indiana Early Hearing Detection and Intervention (EHDI) Program www.hearing.in.gov (317) 233-1264 (phone) (855) 875-5193 (toll free) (317) 925-2888 (fax) Revised August 2016 TABLE OF CONTENTS

Indiana UNHS/EHDI 1

Hospital and Birthing Facility Guidelines 3

Communicating Results to Parents 6

Hospital General Guidelines 8

Referral Procedures 11

Medical Home – Children Identified with Hearing Loss 12

Appendices: Hospital handouts and tip sheets INDIANA UNHS/EHDI

Why UNHS? Hearing loss is one of the most common conditions present at birth, and can have long-lasting effects on a child’s ability to develop speech and language if left undetected. Prior to universal newborn hearing screening (UNHS), the average age of identification of a child with hearing loss was 30 months. With UNHS, the age of identification has decreased to less than 6 months of age. Research has shown that earlier identification of hearing loss significantly improves speech and language outcomes for these children. Through the dedication and hard work of our birthing facilities and hospitals, we can continue to ensure that babies are identified with hearing loss at as early an age as possible.

Mission It is the mission of the Indiana EHDI Program to:  Screen all newborns with state-mandated physiologic screening prior to discharge;  Monitor infants through the EHDI process;  Provide surveillance on the incidence and prevalence of hearing loss in the state of Indiana;  Promote public awareness and education about hearing loss.

Goals  Screen all infants prior to discharge, preferably before one month of age;  Complete a diagnostic assessment on infants who do not pass before three months of age;  Enroll all infants identified with permanent hearing loss in appropriate early intervention before six months of age;  Ensure that every infant with a hearing loss has a Medical Home.

Legal Mandate  Indiana Code 16-41-17-2 states that “…every infant shall be given a physiologic hearing screening examination at the earliest feasible time for the detection of hearing loss.”  Under Public Law 91-1999, screening for hearing loss began on July 1, 2000.  Birthing facilities and hospitals are required to report screening results and referral information to the Indiana State Department of Health (ISDH) each month.

1 What is the Indiana EHDI Program’s Role? The Indiana EHDI Program is responsible for providing resources to hospitals, birthing centers, audiologists, and primary care providers (PCPs) to assist in ensuring all infants born in Indiana receive hearing screening by 1 month of age, are identified by 3 months of age, and are enrolled in early intervention by 6 months of age. We also manage all of the hearing screening and follow-up data, as well as provide family support. How do we do this?  Our program is funded through several sources. We receive some state funding, as well as funding from two federal grants: one from the Centers for Disease Control and Prevention (CDC), and one from the Health Resources and Services Administration (HRSA).  When a Monthly Summary Report (MSR) exception is entered by the hospital, Indiana EHDI staff receives an alert.  Letters are sent to parents and PCPs regarding the infant’s results and remind them of the need for diagnostic testing.  Parents of infants who did not pass receive a phone call from an Indiana EHDI Parent Consultant.  Infants who did not pass UNHS and do not have a documented diagnosis are followed by the program until at least 1 year of age to ensure a diagnosis is achieved.  We communicate with audiologists and PCPs regarding diagnostic status of infants.  When an infant is identified as deaf or hard of hearing, a tool kit is sent to the parents and the PCP.  Parents of infants identified as deaf or hard of hearing are contacted by the Guide By Your Side program. This program offers parent-to-parent support to help guide the family into early intervention that reflects their choices and desires for their child.

Note: References will be made throughout this document to “Hospital Handouts and TIPS.” These are available in the Appendices section of this document, or may be obtained from your EHDI Regional Consultant, or the state EHDI office.

2 HOSPITAL AND BIRTHING FACILITY GUIDELINES

Hospital and Birthing Facility Responsibilities  Identify a primary and alternate contact responsible for completing the Monthly Summary Report (MSR), and provide sufficient time for training and for completing the MSR.  Educate parents about the screening and provide the handout, “The Who, What, and Why of Newborn Hearing Screening.”  Determine if any risk factors are present (see Hospital Handouts and TIPS).  If parents have a religious objection to the screening, have them sign the Religious Objection form. A copy of this form must be faxed to ISDH after the baby is entered on the MSR.  Perform the screening in both ears following hospital protocols.  Document the results of the screening in the chart, including date, result, name of screener, and referrals made (if any).  Re-screen prior to discharge any infant not passing the initial screen in one or both ears. Both ears must be re-screened, even if one ear passed on the initial screen.  For the tes t to b e con sid ered a “p ass”, B OT H ears mu st pas s on th e same scr een .  Discuss the results of the screening with the parents (see Hospital Handouts and TIPS).  Distribute the hearing screening results (on back of “The Who, What, and Why” brochure) to parents following the screening with the results and risk factors documented (see Hospital Handouts and TIPS).  Provide the language and hearing developmental milestones to the parents so they can monitor their child’s progress (see Hospital Handouts and TIPS).  For any infant who did not pass the second screening, distribute the brochure, “What if My Baby Needs More Hearing Testing?”  Complete the UNHS portion of the blood spot card. If hearing screening is delayed for any reason, pull out the pink copy and send the blood spot card promptly to IU Labs. When the hearing screening is completed, fill out the UNHS area on the pink copy and send to IU Labs for data entry.  Document on the EHDI Alert Response System (EARS) all infants who: o Were not screened for any reason o Did not pass the second screening o Pass, but have risk factors for delayed-onset hearing loss  Arrange for follow-up testing of babies who do not pass UNHS prior to discharge, in collaboration with the baby’s Primary Care Provider (PCP). These babies should be reported to the EHDI Program within five business days of UNHS and to the child’s PCP.  Refer babies who pass UNHS but have ANY risk factors for delayed-onset hearing loss to the baby’s PCP. Babies who pass UNHS but have any one of the four mandated risk factors should be reported to EHDI for follow-up at 9 – 12 months of age (see Hospital Handouts and TIPS).

3 If infant PASSES screening and has NO RISK FACTORS:  Inform parents of the results  Give parents the completed UNHS results (on the back of the “Who, What, and Why” brochure), and provide a copy of the hearing and language milestones  Complete the bloodspot card  Document the results of the screening in the baby’s chart, including date, result, name of screener  Provide results to PCP

If infant PASSES screening, but HAS RISK FACTORS:  Risk factors that need to be reported in EARS include: o Family history of permanent childhood hearing loss o Exposure to in-utero infection o Hyperbilirubinemia that required an exchange transfusion o Cranio-facial anomalies (see “Special Circumstances” section for more information on ear anomalies)  Inform parents and PCP of screening results  Give parents the completed UNHS results (on the back of the “Who, What, and Why” brochure), and provide a copy of the hearing and language milestones  Diagnostic testing should occur when the baby is 9 – 12 months of age or sooner if there is parental concern  Explain to parents that a referral to ISDH and the PCP will be made for continued monitoring for late-onset or progressive hearing loss due to the presence of one or more risk factors.  Inform PCP if a risk factor other than the 4 mentioned above are present so that the physician can monitor and refer for testing at 9-12 months of age. These may be documented on the discharge summary that goes to the child’s PCP. These other risk factors include: o > 5 days in special care/NICU o Genetic syndrome associated with hearing loss o Bacterial meningitis o Parent/caregiver concern o Received potentially ototoxic medication (e.g., gentamicin)  Document the results of the screening in the chart, including date, result, name of screener, and referrals made  Complete the blood spot card  Report these infants on the MSR through EARS  See Risk Factor Referral sheet in Hospital Handouts and TIPS

4 If infant DOES NOT PASS screening (refers):  If the infant does not pass the initial screening, a second screening must be completed prior to discharge.  If the infant passes the second screening, proceed as outlined in the section titled, “If Infant Passes Screening and Has No Risk Factors”  To be considered a “pass,” the infant must pass the screening in both ears on the same test.  If the infant does not pass the second screening, inform the parents verbally and in writing  Give parents the completed UNHS results (on the back of the “Who, What, and Why” brochure)  Give parents a copy of the brochure, “What if Your Baby Needs More Hearing Tests?”  Emphasize that a referral does not necessarily mean the infant has permanent hearing loss, but that further evaluation is needed (see section on Communicating Results to Parents)  Explain to parents that their baby will be scheduled for an appointment for diagnostic audiology follow-up at a Level 1 Audiology Center  Note screening results and recommendation for diagnostic follow-up in infant’s chart for PCP and hospital staff  Schedule the follow-up appointment prior to the baby’s discharge from the hospital and provide the appointment date to the family verbally and in writing on the Hearing Screening Results (on the back of “Who, What, and Why” brochure)  Document the results of the screening in the chart, including date, result, name of screener, and referrals made  Enter this infant into the MSR in EARS as soon as possible (within no more than 5 days) to alert ISDH EHDI staff of need for follow-up  Enter the appointment date, time, and location in the comments section of EARS  Include in comments section of MSR any information that will help ISDH when calling families o Location and date of follow-up testing o Primary language of the home if not English o Poor medical prognosis o Adoption or foster care (please identify adoptive or foster mother’s information)  Complete blood spot card

If infant DOES NOT PASS screening, and HAS RISK FACTORS:  Follow same procedures as listed in previous section (If Infant Does Not Pass Screening)  Be sure and note in the infant’s chart and discharge summary any known risk factors.  If the infant has one of the 4 risk factors monitored by ISDH, note that risk factor on the infant’s MSR entry.

5 COMMUNICATING RESULTS TO PARENTS

 Follow your hospital’s policies regarding who discusses the results with the family.  Parents need to be informed of results prior to discharge.  For infants who pass, encourage parents to monitor hearing and language developmental milestones and contact their PCP if concerns arise.  For infants who do not pass, give parents the brochure “What if Your Baby Needs More Hearing Tests?”  See Appendices for additional information.  Keep what you say simple: o Avoid using anxiety-provoking words like “failed” and “deaf”. o Reassure the family there are several reasons why the baby might not pass and that diagnostic testing will clarify how the infant is hearing. Follow-up should be completed in a timely manner, ideally before 3 months of age. o Early detection of hearing loss is important for language development and minimizing the effects of hearing loss on the child’s communication abilities. o Inform parents that the hospital will schedule their baby for follow-up testing prior to the baby’s discharge. If this is not possible due to the baby being discharged on an evening or weekend, give the parents the audiology clinic’s contact information and send the referral to the clinic.  If you are concerned that a parent has more questions than you are comfortable addressing, provide them with the name of the Regional Audiology Consultant for your area, or contact the EHDI Program directly at 317-233-1264.

If parents refuse screening:  Explain that the hearing screening is mandated by state law.  The only acceptable refusal is one based on religious objection.  Provide family with written material on the importance of screening (see Appendices).  Provide family with hearing and language developmental milestones so they can monitor the baby’s development.  Have parents sign the Religious Waiver form (if applicable) and fax a copy to ISDH.  Document refusal of the screening in the chart.  Inform the PCP of religious refusal.  Ask the PCP for assistance in educating the family regarding the importance of screening.

6 If infant is not screened prior to hospital discharge for any reason other than religious refusal:  Contact family and have them return for the screening as soon as possible; preferably before 1 month of age.  Have a standard letter ready and mail to the infant’s family and the infant’s physician stating the importance of the screening and the need for the family to return to the hospital for screening.  If the family does not return for the screening, despite every possible effort by the hospital, the baby should be entered as an exception code 5 for Unauthorized Refusal.  Have a back-up plan in place (first point of contact should be the equipment manufacturer) for equipment failure, to ensure that infants are screened promptly.

Sensitivity to Deaf Culture Hospital personnel need to be aware of parents who may have a perspective from a cultural model, meaning they do not view being deaf as a disability. Members of the Deaf community, which may include individuals with family members who are Deaf, may not be concerned about the hearing status of their infant. In these cases, hospital personnel should be respectful of their view. Families with this perspective are fully capable of providing the child with language (i.e., American Sign Language, or ASL), and may not see a need to pursue intervention.

However, state law mandates newborn hearing screening. If the baby does not pass the screening, inform the parents of the result and refer as you would for any other baby for follow-up testing.

Transferred Babies  The birthing hospital transfers the infant without a hearing screening.  The receiving hospital screens hearing when infant is medically stable and nearing discharge.  The receiving hospital updates their MSR with the results of the screening.  The birthing hospital updates their MSR with the results of the screening.  This is a shared responsibility.  If the birthing hospital does not see an update on the baby within EARS, they should contact the receiving hospital to obtain screening results.  Establish a contact with other hospitals in the area with which your hospital most often shares patients.  If specific hospital contact information is needed, contact your Regional Consultant, or contact the EHDI program directly at 317.233.1264.

7 HOSPITAL GENERAL GUIDELINES

Screening Equipment  Two different screening methods are acceptable. Some hospitals use a combination of both. Otoacoustic Emissions (OAEs) measure the sound waves generated in the inner ear (cochlea). Automated Auditory Brainstem Response (AABR) measures the response of the entire auditory system through the brainstem. Both tests are accurate and reliable when performed correctly. Each hospital selects a method based on resources, available personnel, cost, and the number of babies born.  The Joint Committee on Infant Hearing (JCIH) recommends that all infants in the intensive care nursery (NICU) should be screened using AABR.  Most AABR equipment protocols present stimuli at 35 dB nHL. Only an audiologist should determine if the presentation level should be changed.  The hospital is responsible for ensuring that all calibration needs are met for the screening equipment used.

Quality Assurance  Referral rates should be approximately 1.5 – 4%.  Ensure infants with risk factors are identified and reported.  Strive for appropriate and timely referrals.  Follow hospital policies regarding infection control.  Ensure documentation of results.  Monitor screener competency in administration of screening. The National Center for Hearing Assessment and Management (NCHAM) Newborn Screening Training Curriculum (at www.infanthearing.org) is an excellent resource.  Monitor hospital staff’s competency in communicating results to parents.

Screener Responsibilities  Evaluate infants to be screened based on established hospital protocol. Factors to consider include time of birth, estimated discharge date/time, need for second screen prior to discharge, and infant’s activity level.  Inform parents of the hearing screening and answer any questions.  Perform the screening according to established protocols and procedures.  Inform parents of the results of the screening.  Provide parents with the hearing screening results on the back of the “The Who, What, and Why of Newborn Hearing Screening” brochure.  Report any infants who do not pass as recommended.  Report any infants who pass but have risk factors as recommended.

8  Report any special cases to the on-site supervisor. If questions or problems persist, contact the EHDI Program directly at 317.233.1264.  Document UNHS results and risk factors in the hospital’s medical record, hearing screening log, and/or anywhere else indicated in the hospital’s protocol.  Complete hearing results section on blood spot card.  Follow established infection control procedures.  Use appropriate baby-handling skills.  Recognize problems with screening equipment. Troubleshoot and report unresolved problems to the on-site supervisor immediately.  Recognize potential problems with the infant that may interfere with the screening.  Monitor inventory of supplies and report needs to program supervisor.

Birthing facilities have the responsibility to make certain all staff providing the newborn hearing screening are trained and competent to provide services. All screeners should have an annual review.

Documentation/EARS/MSR Information from the EDHI Alert Response System (EARS) allows ISDH to provide follow-up for all infants who were referred for follow-up or who were not screened for any reason. The method of reporting this information to ISDH is via the web-based EARS application.  Hospitals should assign one employee as the point of contact for reporting newborn hearing screening results. ISDH should always be made aware of any personnel changes.  Hospitals should assign one employee as a back-up, in case the lead employee leaves the position, goes on extended leave, or is unable to complete the reporting for any other reason.  Results of all newborn hearing screenings, attempts, and/or refusals must be documented in the hospital chart.  If a religious waiver is signed, a copy should be kept in the hospital chart and a copy faxed to ISDH for documentation when using EARS.  The hearing screening results section of the blood spot card should be completed and sent to the IU Lab.  EARS Reporting: o When using the EARS system, daily entry of screening results is encouraged because it facilitates timely follow-up and makes data entry less cumbersome at the end of the month (a parent consultant with the EHDI program reaches out to parents of infants who do not pass newborn hearing screening soon after the infant’s information is entered into the system). o Exceptions are required to be entered within 5 days of screening (if infant is in well-baby nursery) or discharge (if infant is in NICU or is not screened). o Include follow-up date and location in comments section of exception entry.

9 o If baby has been adopted or placed in foster care, this should be noted clearly in the comments section, and the adoptive or foster mother’s information should be used or included. o Any other pertinent information should also be included in the comments section: primary language of home if not English, poor medical prognosis, etc. o If the infant is in the NICU, be sure the final screening is completed just prior to discharge. Do not report hearing screening results for infants in the NICU until discharge is imminent. This is to ensure the infant is screened after any treatments that may adversely affect hearing, as well as to prevent ISDH from contacting families of these infants (phone calls and letters) while the infant is still an inpatient. th o The Monthly Summary Report must be completed by the 15 of the month following the end of the months the infants are screened (example: the MSR for infants born in February should be completed by March 15th). o Delays in MSR reporting can result in delays in follow-up for infants and affect the EHDI timelines for 1-3-6. This can have a significantly adverse effect on the language development for these infants. Research has shown that early intervention greatly reduces the effects that hearing loss can have on an infant’s development. An efficient hospital hearing screening program is the first line of defense against these adverse effects for infants identified as deaf or hard of hearing!

FYI: What happens after the hospital refers a baby?  Upon referral, a designated hospital representative will assist parents by scheduling an appointment, preferably at a Level 1 audiology facility.  ISDH will call families to verify addresses and PCP information, and then send letters to the families.  Infants who pass at risk will receive letters regarding the recommended follow-up from ISDH.  Diagnostic audiologic testing should ideally be completed before the infant is 3 months of age. This can help prevent the need for sedation in order to complete the diagnostic evaluation.  Results of the diagnostic evaluation are reported to ISDH and/or Indiana Birth Defect and Problem Registry by the audiologist and/or PCP.  Infants identified as deaf or hard of hearing should have referrals to other medical professionals such as the pediatrician, an otolaryngologist (ENT), geneticist, and ophthalmologist.

10 REFERRAL PROCEDURES: Hospital Procedures for Follow-up of Infants from Newborn Hearing Screening

For infants who do not pass TWO newborn hearing screenings:  Prior to discharge, hospital informs parent/guardian of screening results, need for diagnostic audiology testing, and location(s) of Level 1 Audiology center(s) both verbally and in writing.  Hospital obtains physician referral (unless “standing order” exists).  Hospital contacts audiology facility to schedule the diagnostic audiology testing.  Hospital faxes physician’s referral and hospital referral form to audiology facility.  Hospital notifies mother of appointment date and time (both verbally and in writing), and documents this on the discharge summary.*  Hospital enters child into EARS within 5 business days of final screening (well-baby nursery) or discharge (NICU), and indicates diagnostic audiology appointment location, date, and time in the comments section of the exception entry.  ISDH will call the families to verify address and PCP information. Letters are then sent to the family and the PCP regarding the need for immediate follow-up (before 3 months of age).

*If a child is not scheduled for diagnostic audiology testing prior to discharge (e.g., the child is discharged on a weekend when audiology facility is not open), the hospital should contact the parent to schedule an appointment. If the hospital is unable to reach the family by phone and schedule the baby within 3 days of discharge, the facility should fax a referral form to the child’s PCP indicating, “Need assistance in scheduling this child for audiology follow-up.” The hospital should maintain a copy of the faxed document.

For infants who pass newborn hearing screening, but are at risk for delayed onset hearing loss because of an identified risk factor:  Prior to discharge, hospital notifies parent/guardian of screening results, the identified risk factor, and the need for diagnostic audiology testing at the age of 9-12 months.  Hospital enters infant data into EARS as an exception within 5 days of screening (well-baby nursery) or discharge (NICU).  Hospital notifies PCP of risk factor and need for diagnostic audiology testing at age 9-12 months.  ISDH will send letters to families about the need for diagnostic audiology testing at age 9-12 months.

11 MEDICAL HOME FOR CHILDREN IDENTIFIED AS DEAF OR HARD OF HEARING

One of the goals of the EHDI Program is that children identified as deaf or hard of hearing have a medical home where healthcare services are accessible, family-centered, continuous, comprehensive, coordinated, compassionate, and culturally-competent.

According to the American Academy of Pediatrics, a Medical Home is not a building, house, or hospital, but rather an approach to providing healthcare services in a high-quality and cost-effective manner. Children and their families who have a medical home receive the care that they need from a pediatrician or physician (pediatric health care professional) whom they trust. The pediatric health care professionals and parents act as partners in a medical home to identify and access all the medical and non-medical services needed to help children and their families achieve maximum potential.

Accessible  Care is provided in the child’s community  All insurance, including Medicaid, is accepted and changes are accommodated Family-Centered  Recognition that the family is the principal caregiver and the center of strength and support for children  Unbiased and complete information is shared on an ongoing basis Continuous  Same primary pediatric healthcare professionals are available from infancy through adolescence  Assistance with transitions (to school, home, adult services) Comprehensive  Healthcare is available 24 hours a day, 7 days a week  Preventive, primary, and tertiary care needs are addressed Coordinated  Families are linked to support, educational, and community-based services  Information is centralized Compassionate  Concern for well-being of child and family is expressed and demonstrated Culturally Effective  Family’s cultural background is recognized, valued, and respected

Early Hearing Detection and Intervention Program (EHDI)

Birthing Facility/Hospital Policy Manual for Universal Newborn Hearing Screening (UNHS)

APPENDICES

(Hospital TIPS and Handouts)

Effective Screening Practices

**Do NOT screen repeatedly. Remember, your goal is not for every infant to pass. Infants with hearing loss may eventually and falsely pass with multiple screenings. Screening repeatedly is not cost-effective or time-efficient. Always rescreen both ears.**

WHEN TO SCREEN  12-18 hours after birth  In the early morning or during the night when there are fewer people wanting access to the infant  If a second screen is needed, wait at least 4-6 hours after the initial screen, and complete the second screen as close to discharge as possible SCREENING ENVIRONMENT  Keep conversation to a minimum  Post signs to alert staff that a screening is taking place  Screen away from noisy areas (if completing screening in the room with the family, ask extended family members, children, and visitors to step out of the room or sit quietly during the screening)  Move away from noisy equipment INSPECTION OF THE EAR  Clear away any obvious debris  Do not screen if there is no ear, or only a partial ear, or no ear canal. These infants should be referred directly for a diagnostic audiology evaluation, and reported on the MSR as “did not pass” PREPARING INFANT FOR SCREENING  Infant should be: o Sleeping or quiet o Well-fed o Comfortable o May be swaddled or sucking on a pacifier OAE SCREENING TIPS  Make sure the tip is the proper size, and is seated correctly on the probe  The probe should be properly inserted into the ear, and should be stable without being held in place  Environmental noise can significantly affect the results of OAE screening, so be sure and reduce environmental noise as much as possible ABR SCREENING TIPS  To improve impedance: o Place the electrode on the scrubbed area o Ensure the electrodes are secure and sticking o Apply electrode paste to reduce impedances if necessary  To reduce myogenic noise: o Ensure the infant has been fed, is swaddled and comfortable o Use a neck roll, and if the infant is sucking on a pacifier, remove it

Back-Up Equipment

It is the responsibility of each hospital/birthing center to maintain screening equipment that is functional for the purpose of newborn hearing screening. Therefore, each hospital is also responsible for establishing a plan in the event that the screening equipment malfunctions or breaks down. Infants who are discharged without a hearing screening due to equipment problems must be brought back for screening when the equipment is repaired or replaced. Being prepared for equipment problems will decrease the delays in screening all of the hospital/birthing center’s newborns.

Suggestions for equipment failure protocols:

1) Many hospitals have “sister” facilities that may be able to loan equipment to each other.

2) Some manufacturers offer loaner equipment. Arrangements can be made for equipment to be sent immediately for loan until repairs are completed or the equipment is replaced. Check with your manufacturer’s sales representative regarding this possibility.

3) Check with local audiologists or ENT practices to see if they have equipment that they could loan or contract the service with their practice for a fee.

Blood Spot/Heel Stick Card

Every effort should be made to enter the UNHS results on the Heel Stick card before it is sent to the lab.

 To facilitate data entry, the UNHS screening should be completed and entered onto the Heel Stick card immediately upon completion. All information requested on the card should be filled in completely.

 Do not delay in sending the Heel Stick card if hearing screening is not yet completed. All newborn screen blood samples must be sent within 24 hours of collection, even if the UNHS has not been completed. A delay in sending the Heel Stick card could result in a delay in diagnosis.

 If UNHS has not been completed (due to transfer, NICU, or another reason), retain the pink carbon sheet of the Heel Stick card and keep it until UNHS is completed. When the UNHS is completed, enter the information on the pink copy and forward it to the lab for data entry.

Gentamicin as a Risk Factor for Hearing Loss

Aminoglycosides can damage hair cells in the inner ear (cochlea), resulting in sensorineural hearing loss. Some infants with mitochondrial DNA mutations may be more susceptible to these effects. Commonly used aminoglycosides include: streptomycin, neomycin, kanamycin, amikacin, viomycin, vancomycin, gentamicin, tobramycin.

Information to consider:  The most commonly used aminoglycoside is gentamicin.  Predisposition to hearing loss from aminoglycoside use is determined by the susceptibility gene to aminoglycosides.  Because the toxicity is genetically related, it should not be affected by how many days the infant received the medicine. One single dose can cause hearing loss, depending on the dose level and weight of the infant.  It is too expensive and time-consuming to screen all infants for the presence of the gene. Even if the gene is present, infants in NICU needing antibiotics will be given an aminoglycoside.  Other unknown mutations may be present that cannot be identified by current technology. Infants that test negative for the genetic susceptibility may still be at risk for hearing loss.  Therefore, any infant that receives an aminoglycoside should be considered at-risk for subsequent hearing loss, unless testing for the susceptibility gene is completed prior to birth and results are negative for at-risk mutations.

Recommended Guidelines:

1) All babies should be screened and reported as mandated by Indiana law.

2) If a screen or re-screen is ordered following administration of these drugs, it is best practice to wait 24 hours after the medication has been discontinued. Birthing facilities need to determine their own protocols for situations in which the infant will be discharged sooner than 24 hours after the last dose of the medication.

3) If an infant passes the hearing screening, provide the parents with developmental milestones and encourage them to monitor the infant closely. If concerns arise, they should seek a referral from their physician for a diagnostic audiology evaluation.

4) All infants in the NICU for more than 5 days should be referred to their PCP for diagnostic audiology testing at age 9-12 months.

Speech and Language Developmental Milestones (English)

All infants develop skills that help them learn to communicate and/or talk. Some infants develop these skills earlier, and some will develop these skills later. Talk to your doctor if you have any questions about your child’s speech and language development.

If your baby is this old… .…he or she should:

 Be startled by loud noises  Squeal or coo  Be soothed by familiar voices  Laugh or giggle Birth – 3 months (such as Mom’s voice)  Make vowel sounds (ooh, ahh)

 Make lots of sounds (ba-ba,  Like toys that make noise or ga-ga) sing 3 – 6 months  Enjoy babbling  Turn his or her eyes and head  Make high and low sounds to follow sounds (such as a parent’s voice)

 Respond to his or her name  Say “da-da” or “ma-ma”  Play with sound by repeating  Listen to music or singing 6 – 9 months (la-la-la)  Understand “no” and “bye- bye”

 Respond differently to  Have 2 – 3 new words 9 – 12 months happy/angry talking  Stop when he/she hears “no”  Babble in response to voices

  Be able to identify people, Use gestures (such as hand parts of the body (head, foot), waving) with speech and toys  Bounce to music 12 – 18 months  Name what he/she wants  Repeat some words  Talk in sentences with a few words that people can understand

 Follow simple directions  Recognize other sounds

 (such as cars, dogs, vacuum, 18 – 24 months Speak in two-word phrases  Have a vocabulary of about doorbell) 20 words

Speech and Language Developmental Milestones (Spanish)

Si su bebé es esto viejo… …él o ella deberían:

 Llorar para obtener atención  Voltear su cabeza siguiendo

 Vocalizar para expresar dicha sonidos 0 – 6 meses  Reírse  Responder a voces familiares  Balbucear  Demostrar juego de sonidos

 Empezar a responder a “No”  Decir una o dos palabras

 Responder a sonidos cuando espontaneas la fuente original no es visible  Imitar sonidos 6 – 12 meses  Ondular su mano para decir  Empezar a decir “mama” o adiós “papa”  Vocalizar cuatro silabas  Seguir ocasionalmente diferentes direcciones simples

 Identificar tres partes de su  Imitar sonidos de animales o

cuerpo o en una muñeca del ambiente  Sacudir su cabeza señalando  Pedir mas 12 – 18 meses “no”  Nombrar objetos familiares  Usar 5-15 palabras  Encontrar artículos espontaneas familiares no a la vista

 Entender direcciones básicas

 Señalar dibujos nombrados  Usar frases de dos palabras 18 – 24 meses  Referirse a sí mismo por su nombre  Usar palabras nuevas regularmente

Risk Factors for Hearing Loss

Infants who pass UNHS but have one of the following risk factors need to be reported to ISDH, and referred for diagnostic audiology testing at age 9-12 months. These include: 1. A family history of permanent childhood hearing loss o Family member(s) born with hearing loss in one or both ears o Family member(s) with a hearing loss (not caused by a medical condition such as ear infections) identified in childhood o Does not include family member(s) with known causes of hearing loss like rubella, meningitis, noise exposure, advanced age, etc. 2. Exposure to in-utero infection (for this pregnancy) st o Toxoplasmosis: infected during or just before pregnancy, especially 1 trimester o Group B Strep (GBS): sick infant with positive GBS culture o Syphilis: infected during pregnancy, infant can be treated prior to delivery st o Rubella: infected primarily during the 1 trimester o Cytomegalovirus (CMV): can be transmitted through placenta, birth canal, or post-natally through breast milk o Herpes Simplex Virus (HSV): Yes if: Infant is diagnosed with neonatal Herpes Active infection during vaginal delivery Active infection during cesarean delivery with premature membrane rupture No if: Mother had a cesarean delivery with no membrane rupture No active infection was present at birth 3. Hyperbilirubinemia requiring exchange transfusion 4. Ear malformations/Craniofacial anomalies o Infants who pass UNHS, but have some form of ear malformation or other craniofacial anomaly should be referred to the PCP as having a risk factor for hearing loss o Infants that are born with a congenital ear anomaly that does not allow for UNHS to be completed should be reported as “Did not pass” on the MSR and referred for diagnostic audiology evaluation

There are other risk indicators for hearing loss not mentioned above. These infants do not need to be reported to ISDH on the MSR, but should be referred to the PCP:  Syndromes commonly associated with hearing loss (Down, Usher, Waardenburg, and Neurofibromatosis Type 2)  NICU stay with any of the following, regardless of length of stay: ECMO, assisted ventilation, exposure to ototoxic medications such as aminoglycosides (gentamicin and tobramycin) or loop diuretics (furosemide, lasix). If uncertain about the risk, consult the neonatologist.  Parental concern, bacterial meningitis, chemotherapy, or neurodegenerative disorder

Improving Referral Rates

Low Referral Rates (<1.5%)  When final screening refer rates drop below 1.5%, the risk of missing an infant with hearing loss increases.  Screeners should receive adequate training on using screening equipment, infant preparation, and screening procedures.  Over-screening during any given session can result in passing a baby who actually has a hearing loss. A well-meaning screener who repeats the screening multiple times to “try for a pass” may increase the odds of a false pass. This is a disservice to the deaf or hard of hearing infant and his/her family.

High Referral Rates (>4%)  Refer rates that are too high place an added burden on the system for follow-up and tracking.  When screening is targeted and fewer infants are referred, it is more likely that identified infants will be followed more closely.  False positive rates that are too high may lead to a lack of concern from physicians and families regarding the importance of the screening and need for diagnostic testing.

Suggestions to Improve Referral Rates  Check that equipment is calibrated and working correctly. Make any necessary repairs, and replace equipment if necessary.  Make sure screening staff are properly trained. Review Screener Guidelines and Checklist, and review Effective Screening Practices.  Review policies and procedures, and ensure they are being implemented appropriately. Ensure infants are being screened twice – no more, and no less (unless they pass).  If all policies are being followed and refer rate is still too high or low, provide rationale to the EHDI program regarding suspected reasons for a low/high refer rate.

UNHS Screener Evaluation Form

Screener: Date:

General:  Demonstrates knowledge of UNHS  Demonstrates competency in hospital infection control procedures  Demonstrates competency in patient confidentiality procedures  Demonstrates good (calming) baby handling skills  Demonstrates ability to explain the screening test to parents and answers commonly asked questions  Demonstrates competency in entering information into the screening equipment  Demonstrates competency in setting up equipment  Demonstrates competency in administering the screening test, storing results, printing results, and logging results  Demonstrates ability to communicate results to parents in a sensitive manner  Demonstrates ability to address common questions asked by parents and knowledge of where to refer if unable to answer questions  Demonstrates competency in prioritizing infants to be screened based on age, estimated discharge time, and infant’s activity level  Demonstrates basic trouble-shooting ability with the screening equipment

Communication:  Demonstrates understanding of and importance of newborn hearing screening  Explains how the screening equipment works using proper terminology (OAE and/or AABR)  Demonstrates knowledge of and ability to explain results  Can list common reasons an infant might not pass the screen  Can list common risk factors for hearing loss  Demonstrates knowledge of proper terminology when giving results to parents (pass or refer/did not pass)  Demonstrates ability to address the need for further testing without alarming parents  Demonstrates ability to answer questions frequently asked by parents or physicians

(Adapted from materials from Seattle Children’s Hospital)

Parents’ Frequently Asked Questions (English)

1. Why screen my baby’s hearing? Hearing loss is one of the most common conditions present at birth. It is easy to miss hearing loss because you usually can’t see anything different. Without screening, hearing loss is often not detected until the baby is 2 years old and not talking. Early identification and intervention means that your baby won’t fall behind other children in speech and language development.

2. How do you check my baby’s hearing? OAE: Soft sounds are made into the baby’s ear. If the ear is working normally, it will send back sounds that the computer can pick up and analyze. Your baby doesn’t have to do anything other than be quiet. ABR: Soft sounds are made into the baby’s ear and electrodes or little sensors pick up the brain’s response to the sounds.

3. What does Pass or Refer mean? Pass means that your baby’s ears are working normally today. However, some babies develop hearing loss later so if you are concerned, you should always talk to your baby’s medical provider about getting a hearing test. Refer means that your baby did not pass the hearing screening and needs additional testing.

4. What happens if my baby Refers? If your baby refers a second time, it is very important that you make an appointment with a pediatric audiologist as soon as possible to have a complete hearing test called an Auditory Brainstem Response test or an ABR.

5. How long does the hearing screen take? Usually it takes 10 to 15 minutes depending on how quiet your baby is during the screening.

6. Will hearing screening hurt my baby? No. Most babies sleep through the screen.

7. What can be done if hearing loss is detected? Hearing loss cannot be determined by screening. Screening tells us if further testing by a pediatric audiologist is needed. If an audiologist finds that your baby has a hearing loss he or she will talk with you about what happens next.

8. What if I choose not to allow the hearing screen? You will be asked to sign a refusal form and your baby’s doctor will be advised of your decision. We recommend that you think about the screening. Please ask questions about your concerns. Finding a hearing loss as early as possible is critical in order for children to develop normal speech and language.

Adapted from NCHAM materials

Parents’ Frequently Asked Questions (Spanish)

1. ¿Por qué hacerle una prueba auditiva a mi hijo? La pérdida auditiva es una de las condiciones más comunes que se presentan en los recién nacidos. Es fácil no percatarse de su existencia porque uno no puede ver nada diferente en el bebé. Sin la prueba auditiva, es frecuente que la pérdida auditiva no se detecte hasta que el niño tiene 2 años y no habla. La identificación e intervención temprana hacen que su bebé no tenga un retrazo en su habla y desarrollo del lenguaje.

2. ¿Cómo le hace la prueba auditiva a mi hijo? OAE: Por medio de una sonda se introducen sonidos suaves en el oído del bebé. Si el oído funciona normalmente, éste producirá sonidos que son detectados y analizados por la computadora. Su bebé no tiene que hacer nada solamente permanecer callado. ABR: Por medio de una sonda se introducen sonidos suaves en el oído de su bebé. Electrodos localizados en la frente y en los lóbulos de las orejas detectan la respuesta del cerebro a estos sonidos.

3. ¿Qué significa cuando mi bebé pasa/no pasa la prueba? Si su bebé pasa la prueba, esto significa que los oídos de su bebé funcionan bien. Sin embargo, algunos bebés pueden desarrollar una pérdida auditiva después de la primera prueba. Si usted está preocupado debe hablar con la persona que provee los servicios de salud a su hijo sobre la posibilidad de hacerle otra prueba auditiva. Si su bebé no pasa la prueba esto significa que necesita exámenes adicionales.

4. ¿Qué pasa si mi bebé no pasa la prueba auditiva por segunda vez? Si su bebé no pasa la prueba por segunda vez, es importante que haga una cita con un audiólogo pediatra lo más pronto posible para que realicen un examen que se llama ABR (por sus siglas en ingles).

5. ¿Cuánto tiempo toma hacer el examen? Usualmente de 10 a 15 minutos dependiendo de que tan callado esté el niño durante la prueba.

6. ¿Le dolerá a mi bebé? No. La mayoría de los bebés duermen durante la prueba.

7. ¿Cuál es el siguiente paso si se sospecha la existencia de una pérdida auditiva? Una pérdida auditiva no puede ser confirmada por la prueba auditiva, esta indica que un audiólogo pediatra necesita realizar más pruebas. Si un audiólogo diagnostica una pérdida auditiva, él o ella le dirán cual es el siguiente paso a seguir.

8. ¿Qué pasa si tomo la decisión de no permitir que se le haga a mi bebé la prueba auditiva? Se le pedirá que firme un documento y se le comunicará al doctor de su bebé su decisión. Le recomendamos que piense su decisión. Por favor haga preguntas sobre sus preocupaciones. El diagnóstico de una pérdida auditiva los más temprano posibles es importante para que los niños desarrollen un habla y lenguaje normal.

Adapted from NCHAM materials

Screener Scripts (English and Spanish)

Informing Parents of the Screen: Hi! Congratulations on the birth of your baby. You have received information that we provide hearing screening to all babies born. We are going to screen your baby now.

Informing Parents of the Screen (Spanish): ¡Hola! Felicitaciones por el nacimiento de su bebé. Usted recibió información sobre la prueba auditiva que le hacemos a todos los recién nacidos. Ahora vamos a hacerle la prueba auditiva a su bebé.

Passing: Congratulations on the birth of your baby. We just completed the hearing screen; the results are a pass. Here is a brochure that talks about development of speech and language. It is always important to monitor the progress of your baby’s development, especially their speech and language because your baby’s hearing can change any time. If you are ever worried that your baby can’t hear, talk to your baby’s doctor right away and ask for a referral to an audiologist that is skilled at testing infants and young children.

Passing (Spanish) Pasó: Felicitaciones por el nacimiento de su bebé. Acabamos de finalizar la prueba auditiva de su bebé y él/ella la pasó. Este es un folleto que trata sobre el desarrollo del habla y del lenguaje. Es importante observar el desarrollo de su bebé especialmente de su habla y lenguaje ya que la audición de su bebé puede cambiar en cualquier momento. Si usted está preocupado de que su bebé no pueda oír, hable con el médico pediatra inmediatamente y pídale que lo envíe a donde un audiólogo especializado en hacer pruebas a bebés y niños pequeños.

Pass with Risk Factors: Congratulations on the birth of your baby. We just finished screening your baby’s hearing. Your baby passed the screening today, but has a risk factor that could cause a hearing loss to develop over time. Here is a brochure that talks about development of speech and language. It is always important to check the progress of your baby’s development, especially their speech and language because your baby’s hearing can change any time. It is recommended that your baby be tested again by an audiologist who is skilled at testing infants and young children at about 9-12 months of age. If you are worried before this time that your baby can’t hear, talk to your baby’s doctor right away and ask for a referral to an audiologist immediately.

Pass with Risk Factors (Spanish) Pasó con Factores de Riesgo: Felicitaciones por el nacimiento de su bebé. Acabamos de finalizar la prueba auditiva de su bebé. Su bebé pasó la prueba hoy, pero tiene un factor de riesgo que podría causar con el tiempo que se le desarrolle pérdida del oído. Este es un folleto que trata sobre el desarrollo del habla y del lenguaje. Siempre es importante observar el desarrollo de su bebé especialmente de su habla y lenguaje ya que la audición de su bebé puede cambiar en cualquier momento. Es recomendable que su bebé sea examinado otra vez a los 9-12 meses de edad por un audiólogo especializado en hacer pruebas a bebés y niños pequeños. Si antes de este tiempo usted está preocupado de que su bebé no pueda oír, hable lo más pronto posible con el médico pediatra y pídale que lo envíe inmediatamente a donde un audiólogo especializado en hacer pruebas a bebés y niños pequeños.

Not Passing: Congratulations on the birth of your baby. We just finished screening your baby’s hearing. Your baby did not pass the second screen today. This does not necessarily mean that your baby has a permanent hearing loss, but without additional testing we can’t be sure. The screening results will be provided to your baby’s doctor and your child will be scheduled with an audiologist to complete follow-up testing. Please be sure you make or keep (depending on your hospital’s protocol) the appointment for further hearing testing.

Not Passing (Spanish) No Pasó: Felicitaciones por el nacimiento de su bebé. Acabamos de finalizar la prueba auditiva de su bebé. Los resultados de la segunda prueba auditiva que le hicimos hoy a su bebé indican que él/ella no la pasó. Esto no necesariamente significa que su bebé tenga una pérdida auditiva permanente, pero sin hacer pruebas adicionales no podemos estar seguros. Los resultados de la prueba le serán enviados al médico de su bebé, además su niño será referido al audiólogo para programar una prueba auditiva de seguimiento. Por favor asegúrese de hacer o mantener la cita para hacer más exámenes auditivos (dependiendo del protocolo de su hospital).

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018

CURRENT ISDH GNBS GRANTESS (TBD)

Indiana State Department of Health Genomics and Newborn Screening Program Maintaining a Centralized Program

Indiana Newborn Screening Law (16-41-17)

This form is to be used when updating contacts at your birthing facility. When updated, email or fax this form to the GNBS Program and we will follow-up with you to assist with the transition. Please keep this form up to date and made available to all involved with GNBS to ensure accuracy and standards across the state. ISDH GNBS Program will work on keeping you up to date with new resources, best practices, and direct lines of contact and will need this form to be accurate in order to provide you this information in a timely and efficient manner. Email: [email protected] Fax: 317.234.2995 Phone: 888.815.0006

Birthing Facility: ______

Level of Care Rating: ______Current EMR System: ______

Leadership Contact: ______NAME ROLE

______EMAIL PHONE NUMBER

NBS Log Location: ______

(AVAILABLE IN EXCEL FORMAT TO AID IN SHARING AMONG REPORTERS/ISDH)

Hearing MSR: ______NAME EMAIL

Pulse Ox MSR: ______NAME EMAIL

Heelstick MSR: ______NAME EMAIL

Lab Contact: ______NAME EMAIL

CIO/IT/IS Contact: ______NAME EMAIL

Medical Records/HIM Contact: ______NAME EMAIL Indiana State Department of Health Genomics and Newborn Screening Program Maintaining a Centralized Program Process for educating parents: ______

______

How are the brochures presented: ______

______

How do they identify the PCP: ______

______

What is the process of opting in/out of the DBS storage and signature? ______

______

Where does the heelstick take place?

In the room: Nursery: Other: ______

Who routinely collects the heelstick? ______

______

Where are the pulse ox screenings performed?

In the room: Nursery: Other: ______

Where are the hearing screenings administered?

In the room: Nursery: Other: ______

Are your hearing screen services contracted/referred? If yes, to who? ______

Who is responsible for the last quality check? ______

Process of completed NBS card: ______

______

Who fills out the NBS Log? ______

Is NBS Log Electronic? Yes ____ No ____ Is NBS Log Up to Date? Yes ____ No ____ Indiana State Department of Health Genomics and Newborn Screening Program Maintaining a Centralized Program Newborn Screening and Birth Defects Reporting Processes for your Birthing Hospital: ______Use below space to provide process map if needed. Genomics and Newborn Screening Program Birthing Facility Outreach IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Central Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH Mission of ISDH GNBS Program

“Ensure that every newborn in Indiana receives state-mandated screening for all designated genetic conditions while maintaining a centralized program to ensure that the infants who test positive for screened condition(s) receive appropriate diagnosis and treatment and that their parents receive genetic counseling and support. We promote genetic services, public awareness, and education concerning genetic conditions.” Accomplishing the Mission

 Stakeholders’ Roles & Responsibilities • Best Practices • Reporting to Maintain a Centralized Program • Tools & Resources GNBS Program Goals & Responsibilities

 Provide Education and Support  Improve collection and testing process to reduce rescreens and achieve best practices  Act in a timely and efficient manner when follow-up is needed  Improve existing and new programs to aid in care o(i.e.. Condition specific grantees, courier services, NBS Lab contract)  Provide genetic services and research via heelstick Birthing Facility Responsibilities

Educate families prior to GNBS o Utilize provided brochures and dialogue as needed o Ensure Research Opt In/Out portion is checked and signed by parent/guardian on back of Heelstick card Screen all infants prior to discharge/transfer o Submit signed religious refusal waiver in lieu of NBS to ISDH  Ensure quality, timeliness and documentation o NBS card, NBS log, INSTEP, IBDPR Report to ISDH GNBS o Notify ISDH immediately if a discharged or transferred infant has not received a valid NBS ISDH GNBS Grantees and Vendor GRANTEES VENDOR

Condition specific to provide specialized services The NBS Lab is a vendor to the ISDH GNBS program from birth to three years of life to those with with the purpose of providing a centralized presumptive positive and confirmed conditions collection and processing location allowing for that we test for. uniformed processes, primarily for heelstick screening, retention, research, and destruction.  Confirmatory testing  Immediate point of contact  Education and other resources for public and  Education and support for family birthing facilities   Condition specific resources Immediate follow-up care for presumptive positive/abnormal DBS  Other follow-up care services Indiana Newborn Screening Law* (IC 16-41-17)

Three (3) Screens for 49 Conditions 1. Universal Newborn Hearing Screen (UNHS) 2. Pulse Oximetry 3. Heelstick

“It’s not just the PKU test anymore?” NBS History

 1965: PKU was initial NBS condition!  1978: Hypothyroidism added…  1985: Galactosemia, homocystinuria, MSUD, and hemoglobinopathies  1986: Indiana Birth Defects and Problems Registry (IBDPR) was enacted to track birth defects among Hoosier babies  1999: Biotinidase deficiency and congenital adrenal hyperplasia  2000: Universal Newborn Hearing Screen  2003: Screening further expanded to include disorders detected by tandem mass spectrometry (MS/MS)  2007: CF  2012: CCHD is the most recent screened for condition  2018: SCID and SMA are added to the GNBS panel! IN was the 2rd state to add Pulse Ox to our screening panel! Accomplishing the Mission

 Stakeholders’ Roles & Responsibilities  BEST PRACTICES • Reporting to Maintain a Centralized Program • Tools & Resources Universal Newborn Hearing Screen

Screen by 1 month, confirm by 3 months and early intervention by 6 months!  Perform: o Two (2) inpatient hearing screens can be performed as early as six (6) hours after birth and preferably before discharge  Document : o In facility’s NBS Log o In “EARS” by designated reporter

The Early Hearing Detection and Intervention (EHDI): The EHDI program is a sub-group of GNBS and is the primary contact for hearing screen related questions and concerns. Pulse Oximetry Pulse Oximetry can detect 7 congenital heart defects * CCHDs are reportable to IBDPR  Perform between the first 24 and 48 hours of life o Substitute testing to be documented and reported o Baby should be awake calm, and warm during the test o Both Right hand and foot must pass on the same screening in order to be valid o Recommended to perform with heelstick screen oDocument: o In Facility's NBS Log, & o INSTEP by designated reporter

The Genomics and Newborn Screening (GNBS) program is the primary contact for pulse oximetry related questions and concerns. Heelstick

Heelstick detects 47 different conditions! 24 HOURS AFTER BIRTH AND NOT LATER THAN 48 HOURS AFTER BIRTH  Perform using Best Practice Do’s & Don’ts  Document: NBS log & INSTEP, submit RR if applicable Heelstick should occur prior to discharge and transfer if a valid normal heelstick has not yet been confirmed. o This protocol aids in follow-up and can identify abnormalities even when the heelstick is not considered a valid test. o Best practice is to always obtain the heelstick sample to prevent infants from being missed; however, exceptions may occur if practitioner determines a delay in transfer is an increased risk for infant. Heelstick: Do’s and Don’ts

DO THIS DON’T DO THIS  Sample must saturate all the way through X Don’t Layer blood Ideally fill the circles, but X Don’t use capillary tubes drops can be placed anywhere on filter paper; X(No EDTA, No Heparin) Check both sides to assure X Don’t scratch the surface of the filter blood has gone through the paper with capillary tubes or heels filter paper completely. X Don’t forget to obtain heelstick prior Allow the blood to wick into to a blood transfusion being given or filter paper to prevent before discharge or transferring the scratching and damage to patient sample.  Collect at 24 hours*

* Address NICU processes Best Practice: NBS Log 410 IAC 3-3-6 Sec. 6. (a)

Every birthing facility and midwife or physician is to maintain a newborn screening log that documents the following: Name of newborn or infant Attending physician or midwife Medical record number Form number of sample sent Date sample collected Date sample sent Date results received What the results were (hearing screen, pulse oximetry, heel stick) Name of person notified of positive results and date and time of notification *ISDH has made an excel spreadsheet available to maintain your NBS log.* Best Practices (410 IAC 3-3-6 Sec. 6) Review NBS Log daily to ensure compliance and that results are recorded within fourteen (14) days (Part d.) o NBS Lab must be contacted if results are not received within fourteen (14) days Rescreening: If the birthing facility and or PCP is notified by the NBS Lab that a specimen is inadequate, they must try to repeat the heelstick within forty-eight (48) hours. o If they are not able to repeat the heelstick within forty-eight (48) hours, ISDH GNBS must be contacted so they can try to follow-up on all babies that have been reported as not having received valid screening. (Part f. of Indiana Administrative Code, pg. 11) Accomplishing the Mission

 Stakeholders’ Roles & Responsibilities  Best Practices  Reporting to Maintain a Centralized Program • Tools & Resources Required Reporting

• Write legibly Complete NBS Card • All fields completed

Religious Refusal • Screen refused indicated Waiver • Signed and submitted • 15th of every month by 5pm Monthly Summary EST Report • Account for all cases

• Timely reporting of diagnosis IBDPR • Appropriate coding

• Change of demographic Incident Reporting information • Lost to follow-up NBS Card Reporting: Do’s Do document all 3 portions of GNBS appropriately per scenario Do provide Medical Record Number Do provide Follow-Up Physician o Hospitalist is only needed when infant is in NICU Do make all entries Legible Do retain the yellow copy for your facility’s record Do retain pink copy for later submission of hearing, & pulse oximetry results. NBS Card Reporting: Don’ts

X Don’t send empty cards to lab for refused heelstick! • ISDH GNBS has updated IN’s Religious Refusal Waiver to support documenting the completed hearing and pulse oximetry portions of GNBS when the heelstick has been refused.

X Don’t duplicate NBS cards! NBS Card: Identification/Consent

Each card has a unique number that is associated and linked to the individual patient called a requisition number o Consents and all other parts of the card should not be copied o One NBS Card per heelstick o Requisition Number is used to link all three components of the NBS card. o Rescreens will need another consent signed, additional requisition number(s) will be linked to the infant. Spanish Consents need to have patient label. Label all separated forms with patient label to aid in accurate reporting. NBS Card: Getting it to the Lab

Envelopes provided by the NBS Lab Indicate Date and Time on the envelope once set out for courier for QA tracking purposes Document in your facilities NBS Log: DATE SENT/RECEIVED If courier misses a pick-up, or for related questions, contact IU NBS Lab Manager or ISDH GNBS. Religious Refusal Waiver (IC 16-41-17-2)

Parent/guardian is able to opt out of one, two, or all three portions of NBS due to religious beliefs oParent/guardian must sign the form and indicate which screen(s) they are opting out of oSubmit completed religious waivers to ISDH GNBS

*Due to large heelstick refusals, an updated RR waiver has been provided to include area for hearing screen and pulse oximetry results in place of the NBS Card. Indiana Birth Defects and Problems Registry (IBDPR)

Purpose •Detect trends •Population-based •Address community surveillance system that •Prevent childhood concerns seeks to promote fetal, development disabilities •Education and awareness infant and child health •Enhance the quality of •Referrals to care life of affected children •Annual reporting and their families Description Data Current IBDPR System

• IBDPR falls under the Genomics portion of the Genomics and Newborn Screening program • Collects information from 3 sources: • Hospital Discharge Data • Physician Reporting • Newborn Screening • Information on children from birth to 3 years of age • Up to age 5 for Fetal Alcohol Syndrome (FAS) • All ages for Autism Spectrum Disorder • Enhancements are being made for more direct reporting via data standards (HL7) IBDPR Conditions and Auditing Process

• Conditions reported to IBDPR are both REPORTABLE and TARGETED • Reportable conditions are mandated by law • Targeted conditions are conditions of public health significance and require an medical chart abstraction

• A medical chart abstraction requires reviewing medical records and abstracting relevant information for confirmation of targeted condition(s) • Targeted conditions reported through the Physician Reporting Portal are automatically confirmed and will not require an audit INSTEP Provides ISDH GNBS with: Quality indicator reports for each facility and midwifery Assurance that facilities, centers, and midwiferies are abiding the state mandated law Ability to follow babies that are transferred when inputted correctly as a transfer and provided the receiving facility Ability to be alerted when there is missing information, an invalid heelstick, abnormal results, or no record prompting follow-up Uniformed and centralized data repository INSTEP Monthly Summary Reports

MSRs are due by 5 PM EST on the 15th of the following month! Birthing facilities, centers, and midwiferies submit their monthly live birth totals, number of screens, and exceptions (MSRs) o Objective of MSRs is to ensure that all babies born in Indiana are receiving valid screens, rescreens, and getting the follow-up care that may be needed based on those results o Coordinate/Reconcile Number of deliveries with number of screenings. Birthing Facility Report Cards

Monthly Report Card o Distributed to those on MCP Form o To be available on ISDH GNBS webpage Quality Indicators o Developed through NewSTEPs360 and are subject to change o Suggestions welcomed to foster best outcomes

*Birthing Facility Report Cards from ISDH GNBS encompass all 3 NBS Screens Maintaining a Centralized Program

Who is your primary NBS contact? Who’s performing your NBS? Who are your reporters? Do you know when the MSR is due? Where is your NBS Log? Is it made available to all NBS reporters? Who receives your report card? o From ISDH o From IU NBS lab Maintaining a Centralized Program: Essential Components

 Complete NBS logs and MSRs in timely and accurate manner  Update NBS contacts via MCP reporting form  Provide GNBS education, resources, and support for your staff involved with GNBS  Stay up to date on best practices and protocols  Review monthly report cards for quality improvement opportunities Accomplishing the Mission

 Stakeholders’ Roles & Responsibilities  Best Practices  Reporting to Maintain a Centralized Program  Tools & Resources GNBS Toolkit

 Facility Resource: o Utilize for trainings, refreshers, and quick references o Updates will be sent electronically to a designated set of contacts to disseminate as needed and to update hardcopy version o Contains MCP Form that needs to be frequently reviewed and updated as needed (Appendix 8) GNBS Toolkit: Appendices

Appendix 1: Genomics and Newborn Screening Appendix 4: State Forms (en español) • Newborn Screening Law & Administrative Code Appendix 5: GNBS Technique References and Protocols • 49 Conditions List • Hearing, Pulse Oximetry and Heelstick Reference Sheets Appendix 2: Indiana Birth Defects and Problems Registry • Presumptive/Abnormal Heelstick Results • IBDPR Law and Administrative Code • Invalid Heelstick Results • Birth Defects Descriptions • Special Cases for Pulse Oximetry and Heelstick • IBDPR Reportable Conditions List Appendix 6: Early Hearing Detection and Intervention Policy Appendix 3: State Forms Manual • Religious Refusal Waiver Appendix 7: Current ISDH GNBS Grantees • Storage Request of Dried Blood Spot Appendix 8: Maintaining a Centralized Program Form • Destruction Request of Dried Blood Spot Appendix 9: GNBS Contacts • Request for Newborn Screening Results • Health Information Access Request Contact Information

Genomics and Newborn Early Hearing Detection & Screening Intervention (EHDI) Program [email protected] [email protected] P: (888) 815-0006 P: (855) 875-5193 F: (317) 234-2995 F: (317) 925-2888 http://www.in.gov/isdh/27437.htm http://www.in.gov/isdh/20217.htm

USPS: Indiana State Dept. of Health – Maternal and Child Health Attn: Newborn Screening 2 N. Meridian St. Indianapolis, IN 46204 QUIZ Question 1

What 3 Screenings currently test for over 49 conditions? a. Heelstick, Pulse Oximetry, and Hearing Screenings b. Hearing screens and the PKU test c. Metabolic screens and INSTEP reporting d. None of the above QUIZ Question 2

What are the EHDI (Early Hearing Detection and Intervention) timeline goals for hearing screens? a. Screen by six hours after birth b. Screen by one month, confirm by three months and early intervention by six months c. To have two inpatient screens before discharging d. Intervention by one month old QUIZ Question 3

Babies with three failed pulse oximetry tests should receive clinical assessment and, an echocardiogram, and be referred to pediatric cardiology. a. True b. False QUIZ Question 4

If a religious refusal waiver has not been signed, a heelstick must occur prior to discharging or transferring an infant to another facility. a. Always, as this is best practice and required by law b. No, it is not necessary as it will be drawn at 48 hours anyway c. Best practice is to always obtain a specimen to prevent infants from being missed; however, exceptions may occur if practitioner determines a delay in transfer is an increased risk for infant. d. None of the above QUIZ Question 5

What are the key components for completing a NBS card? a. All fields completed and legible b. Quality specimen obtained c. Follow Up Physician Included d. Complete Last Quality Check e. All of the above QUIZ Question 6

You can retain and use which color copy of the NBS Card to submit hearing or pulse oximetry results when they are not done prior to the heelstick being sent to the lab? a. Pink b. Blue c. Yellow d. Purple QUIZ Question 7

When can ISDH GNBS request your facilities NBS Log for a data audit?

a. Quarterly b. Annually c. Anytime d. Monthly QUIZ Question 8

A birthing/submitting facility should receive Heelstick results from the NBS Lab within how many days of sending them?

a. Five b. Three c. Fifteen d. Fourteen QUIZ Question 9

If the heelstick is refused, what form should be used to document the refusal and other screening results; and where should it be sent? a. Religious Refusal Waiver, send to NBS lab or ISDH GNBS team b. Pink Copy, send to IU lab c. INSTEP, no need to send d. Blue Copy, physician QUIZ Question 10

When NBS has not occurred prior to discharge or transfer, and no complete religious refusal waiver has been obtained, who needs to be notified immediately? a. Primary Care Physician (PCP) b. PCP & ISDH GNBS Team c. Grantee (Follow Up Clinics) d. NBS Lab QUIZ Question 11

How does the IBPDR program receive information on cases of birth defects? a. Hospital discharge data b. Direct reports from physicians c. Automatically from electronic medical records d. Both a. and b. QUIZ Question 12

What’s the difference between Reportable and Targeted conditions for the IBDPR? a. Reportable conditions are mandated by law, and targeted conditions are automatically confirmed. b. Reportable conditions are monitored through medical chart abstractions, and targeted conditions are mandated by law. c. Reportable conditions are mandated by law, and targeted conditions are public health priorities that require medical chart abstraction for confirmation. QUIZ Question 13

When are MSRs (Monthly Summary Reports) due?

a. The fifteenth by five PM EST b. First of every month by five PM EST c. The thirty-first by midnight EST d. The fifth by five PM EST QUIZ Question 14

If changes occur within your birthing facility in the director, manager, or reporters roles, where can you make these updates? a. No need to make updates, ISDH GNBS will find out b. Update the MCP Form, located in Toolkit, and submit to ISDH GNBS as soon as possible c. If able, ask the person(s) in previous role what you should do to continue responsibilities d. Contact NBS Lab QUIZ Question 15

Monthly Report Cards will include information on what portions of NBS? a. Hearing Screen b. Heelstick c. Pulse Oximetry d. All of the above QUIZ Question 16

What should you do to help maintain a centralized GNBS program? a. Complete NBS logs and MSRs in timely and accurate manner b. Update NBS contacts via MCP reporting form c. Provide GNBS education, resources, and support for your staff involved with GNBS d. Stay up to date on best practices and protocols e. Review monthly report cards for quality improvement opportunities f. All of the above

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 QUIZ

1. What are the 3 screenings that test for over 49 conditions? a. Heelstick, Pulse Oximetry, and Hearing Screenings b. Hearing screens and the PKU test c. Metabolic screens and INSTEP reporting d. None of the above

2. What are the EHDI (Early Hearing Detection and Intervention) timelines goals for hearing screens? a. Screen by six hours after birth b. Screen by one month, confirm by three months and early intervention by six months c. To have two inpatient screens before discharging d. Intervention by one month old

3. Babies with three failed pulse oximetry tests should receive clinical assessment and, an echocardiogram, and be referred to pediatric cardiology. a. True b. False

4. If a religious refusal waiver has not been signed, a heelstick must occur prior to discharging or transferring an infant to another facility. a. Always, as this is best practice and required by law b. No, it is not necessary as it will be drawn at 48 hours anyway c. Best practice is to always draw to prevent infants from being missed; however, exceptions may occur if practitioner determines a delay in transfer is an increased risk for infant. d. None of the above

5. What are the key components for completing a NBS card? a. All fields completed and legible b. Quality specimen obtained c. Follow Up Physician Included d. Complete Last Quality Check e. All of the above

6. You can retain and use which color copy of the NBS Card to submit hearing or pulse oximetry results when they are not done prior to the heelstick being sent to the lab? a. Pink b. Blue c. Yellow d. Purple

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 QUIZ

7. When can ISDH GNBS request your facilities NBS Log for a data audit? a. Quarterly b. Annually c. Anytime d. Monthly 8. A birthing/submitting facility should receive Heelstick results from the NBS Lab within how many days of sending them? a. Five b. Three c. Fifteen d. Fourteen

9. If the heelstick is refused, what form should be used to document the refusal and other screening results; and where should it be sent? a. Religious Refusal Waiver, send to NBS lab or ISDH GNBS team b. Pink Copy, send to IU lab c. INSTEP, no need to send d. Blue Copy, physician

10. When NBS has not occurred prior to discharge or transfer, and no complete religious refusal waiver has been obtained, who needs to be notified immediately? a. Primary Care Physician (PCP) b. PCP & ISDH GNBS Team c. Grantee (Follow Up Clinics) d. NBS Lab

11. How does the IBPDR program receive information on cases of birth defects? a. Hospital discharge data b. Direct reports from physicians c. Automatically from electronic medical records d. Both a. and b.

12. What’s the difference between Reportable and Targeted conditions for the IBDPR? a. Reportable conditions are mandated by law, and targeted conditions are automatically confirmed. b. Reportable conditions are monitored through medical chart abstractions, and targeted conditions are mandated by law. c. Reportable conditions are mandated by law, and targeted conditions are public health priorities that require medical chart abstraction for confirmation.

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 QUIZ

13. When are MSRs (Monthly Summary Reports) due? a. The fifteenth by five PM EST b. First of every month by five PM EST c. The thirty-first by midnight EST d. The fifth by five PM EST

14. If changes occur within your birthing facility in the director, manager, or reporters roles, where can you make these updates? a. No need to make updates, ISDH GNBS will find out b. Update the MCP Form, located in Tool Kit, and submit to ISDH GNBS as soon as possible c. If able, ask the person(s) in previous role what you should do to continue responsibilities d. Contact NBS Lab

15. Monthly Report Cards will include information on what portions of NBS? a. Hearing b. Heelstick c. Pulse Oximetry d. All of the above

16. What should you do to help maintain a centralized GNBS program? a. Complete NBS logs and MSRs in timely and accurate manner b. Update NBS contacts via MCP reporting form c. Provide GNBS education, resources, and support for your staff involved with GNBS d. Stay up to date on best practices and protocols e. Review monthly report cards for quality improvement opportunities f. All of the above

Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 QUIZ

Indiana State Department of Health Genomics and Newborn Screening Program QUIZ - Phase 2 ANSWER KEY 1) A 2) B 3) A – True 4) C 5) E 6) A 7) C 8) D 9) A 10) B 11) D 12) C 13) A 14) B 15) D 16) F Indiana State Department of Health Genomics and Newborn Screening Program BIRTHING FACILITY OUTREACH 2018 Survey

Birthing Facility: ______Date: ______What is your GNBS/IBDPR stakeholder role?(please mark all that apply) Reporters: Heelstick Hearing Pulse Oximetry IBDPR Medical Records: Lab Personnel: OB/NICU Doctor or Nurse: OB/NICU Manager: IT Personnel: Other:______On a scale of 0 to 5, answer the following questions with 0 being lowest and 5 being the highest level. What was your level of understanding of GNBS processes before today’s meeting? 0 1 2 3 4 5 What is your level of understanding after participating in the GNBS outreach meeting today? 0 1 2 3 4 5

How well do you feel prepared to train your staff on GNBS Best Practices? 0 1 2 3 4 5 Were you able to review the GNBS toolkit prior to the meeting? Yes or No How helpful are the provided resources? 0 1 2 3 4 5

In what areas do you feel you need more information regarding? Choose all that apply. ☐Maintaining a Centralized Program ☐Roles and Responsibilities ☐NBS Log ☐Rescreens ☐ISDH GNBS Notification ☐Religious Refusal Waiver ☐Hearing Screen Best Practices ☐Hearing Screen Quality Indicators ☐Pulse Oximetry Best Practices ☐Pulse Oximetry Quality Indicators ☐Heelstick Best Practices ☐Heelstick Quality Indicators ☐NBS Card ☐Last Quality Check ☐Courier Services ☐Monthly Summary Reports ☐INSTEP ☐EARS ☐IBDPR ☐GNBS Tool Kit ☐Monthly Report Cards ☐Resources

Other: ______

Page 1 of 2 What improvements could be made to existing resources, or what resources could be added in order to best assist you with GNBS practices at your birthing facility? ______

______

Recommendations and other feedback: ______

______

Once complete, please return to Nurse Surveyor or email to [email protected]

Page 2 of 2 NEWBORN SCREENING LOG

DOB INFANTS NAME PRIMARY PHYSICIAN/MIDWIFE MEDICAL RECORD # REQUISITION # DATE SENT / RECEIVED

HEARING SCREEN INITIAL RESCREEN RESULTS RECEIVED INIT PASS/FAIL 1 DATE SENT / RECEIVED2 PASS/FAIL 2 PERSON / DATE / TIME NOTIFIED DATE SENT / RECEIVED

PULSE OXIMTERY TIAL RESCREEN 1 RESCREEN 2 PULSE OX R HAND / FOOT DATE SENT / RECEIVED 2 PULSE OX R HAND / FOOT DATE SENT / RECEIVED3 PULSE OX R HAND / FOOT2

HEEL STICK RESULTS RECEIVED INITIAL RESCREEN PERSON / DATE / TIME NOTIFIED2 DATE SENT / RECEIVED4 HEEL STICK DATE SENT / RECEIVED5 HEEL STICK2

RESULTS RECEIVED NAME OF DRAWER PERSON / DATE / TIME NOTIFIED3

Infant Mortality Slide Reports

By Hospital Regions IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Central Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Central Southwestern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Eastern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Midwestern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Northeastern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Northern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Northwestern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Southeastern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Southern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Southwestern Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH IMPACTING INFANT MORTALITY

INFANT MORTALITY INDIANA STATE DEPARTMENT OF HEALTH Western Hospital Region 2016 DIVISION OF MATERNAL AND CHILD HEALTH