DOCSLIB.ORG

Preimplantation Genetic Screening and Diagnosis

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Preimplantation Genetic Screening and Diagnosis Lab Management Guidelines V2.0.2020 Preimplantation Genetic Screening and Diagnosis MOL.CU.119.B v2.0.2020 Description Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) are used to detect genetic conditions, chromosome abnormalities, and fetal sex during assisted reproduction with in vitro fertilization (IVF). PGD refers to embryo testing that is performed when one or both parents have a known genetic abnormality. This includes single-gene mutations and chromosome rearrangements. PGS refers to screening an embryo for aneuploidy when both parents are chromosomally normal. Genetic testing is performed on cells from the developing embryo prior to implantation. Only those embryos not affected with a genetic condition are implanted. PGD may allow at-risk couples to avoid a pregnancy affected with a genetic condition. The Society for Assisted Reproductive Technology and the American Society for Reproductive Medicine have published joint practice committee opinions to address the safety, accuracy, and overall efficacy of PGD and PGS.1,2 This guideline does not include prenatal or preconception carrier screening. Please refer to Genetic Testing for Carrier Status for that purpose. This guideline does not include prenatal genetic testing. Please see Genetic Testing for Prenatal Screening and Diagnostic Testing for genetic testing done during pregnancy. Terminology for preimplantation genetic testing has recently been updated, with terms created for various clinical testing indications:3 PGT-M: testing performed when the embryo is at an increased risk for a monogenic disorder PGT-SR: testing performed when the embryo is at increased risk for a structural chromosome rearrangement PGT-A: testing performed to screen an embryo for aneuploidy when both parents are chromosomally normal Guidelines and Evidence The following section includes relevant guidelines and evidence pertaining to PGD and/or PGS. © 2020 eviCore healthcare. All Rights Reserved. 1 of 2 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V2.0.2020 Society for Assisted Reproductive Technology and American Society for Reproductive Medicine Practice Committee Opinion In a joint practice committee opinion, The Society for Assisted Reproductive Technology and The American Society for Reproductive Medicine stated the following:4 o “PGD is indicated for couples at risk for transmitting a specific genetic disease or abnormality to their offspring.” o “Due to the risk for conceiving a child with a genetic disease or other abnormality, counseling for couples considering PGD is required...” o Suggested key points of genetic counseling include IVF and embryo biopsy- related risks, natural history of the tested condition, other reproductive options, limitations of preimplantation testing, and prenatal follow-up options. d Criteria n a Benefit Exclusion g n The Health Plan does not cover any services related to assisted reproduction, including i any genetic testing done for the purpose of preimplantation genetic screening or n diagnosis. e e r References c S 1. American Society for Reproductive Medicine and Society for Assisted Reproductive c Technology. Preimplantation genetic testing: a practice committee opinion. Fertil i t Steril. 2008;90(5 Suppl):S136-143. e 2. American Society for Reproductive Medicine and Society for Assisted Reproductive n Technology. The use of preimplantation genetic testing for aneuploidy (PGT-A): a e committee opinion. Fertil Steril. 2018;109(3):429-436. G 3. Zegers- Hochschild F, Adamson GD, Dyer S, et al. The International Glossary on Infertility and Fertility Care, 2017. Fertil Steril. 2017;108(3):393-406. n o i 4. Practice Committee of Society for Assisted Reproductive Technology; Practice t Committee of American Society for Reproductive Medicine. Preimplantation a genetic testing: a Practice Committee opinion. Fertil Steril. 2008;90(5 Suppl):S136- t 43. n a * l p m i * ® ® CPT (Current Procedural Terminology) is a registered trademark of the American Medical Association (AMA). CPT five digit e codes, nomenclature and other data are copyright 2017 American Medical Association. All Rights Reserved. No fee schedules, r basic units, relative values or related listings are included in the CPT® book. AMA does not directly or indirectly practice medicine or dispense medical services. AMA assumes no liability for the data contained herein or not contained herein. P © 2020 eviCore healthcare. All Rights Reserved. 2 of 2 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com .
Load more

Recommended publications
  • Practice-Based Competencies for Genetic Counselors © 2015
    Practice-Based Competencies for Genetic Counselors © 2015 Accreditation Council for Genetic Counseling 7918 Jones Branch Drive, Suite 300, McLean, VA 22102 (703) 506-7667 www.gceducation.org Practice-Based Competencies for Genetic Counselors This document defines and describes the twenty two practice-based competencies that an entry-level provider must dem- onstrate to successfully practice as a genetic counselor. It provides guidance for the training of genetic counselors and an assessment for maintenance of competency of practicing genetic counselors. The didactic and experiential components of a genetic counseling training curriculum and maintenance of competency for providers must support the development of competencies categorized in the following domains: (I) Genetics Expertise and Analysis; (II) Interpersonal, Psychosocial and Counseling Skills; (III) Education; and (IV) Professional Development & Practice. These domains describe the minimal skill set of a genetic counselor, which should be applied across practice settings. Some competencies may be relevant to more than one domain. Italicized words are defined in the glossary. Domain I: Genetics Expertise and Analysis 12. Understand how to adapt genetic counseling skills for varied service delivery models. 1. Demonstrate and utilize a depth and breadth of understanding and knowledge of genetics 13. Apply genetic counseling skills in a cultur- and genomics core concepts and principles. ally responsive and respectful manner to all clients. 2. Integrate knowledge of psychosocial aspects of conditions with a genetic component to Domain III: Education promote client well-being. 14. Effectively educate clients about a wide range 3. Construct relevant, targeted and compre- of genetics and genomics information based hensive personal and family histories and on their needs, their characteristics and the pedigrees.
    [Show full text]
  • Efficacy of Genetic Testing in Cases of Ambiguous Genitalia
    EFFICACY OF GENETIC TESTING IN CASES OF AMBIGUOUS GENITALIA DETECTED ON PRENATAL! ULTRASOUND ! ! ! by! EVELYN ROSE! CRAWFORD ! ! Submitted in partial fulfillment of !the requirements for the degree of Master of! Science ! ! ! Thesis Advisor: Larisa! Baumanis, MS ! ! Genetic Counseling! Department !of Genetics CASE WESTERN RESERVE! UNIVERSITY ! ! ! ! ! ! ! August, 2014 ! ! CASE WESTERN RESERVE! UNIVERSITY SCHOOL OF GRADUATE! STUDIES We hereby approve! the thesis of: Evelyn Rose! Crawford candidate for the degree of !Master of Science degree.* ! ! Larisa Baumanis, MS (Committee Chair) ! Anne Matthews, RN, PhD ! Noam Lazebnik, MD ! Aditi Parikh, MD ! Sara Debanne, PhD ! ! ! ! Date of Defense June 20, 2014 ! ! ! ! ! *We also certify that written approval has been obtained for any proprietary material contained therein !2 ! ! ! TABLE OF CONTENTS List of Tables 4 List of Figures 5 Acknowledgements 6 Abstract 7 Introduction 8 Purpose of Study & Specific Aims 10 Background 11 Detection of Ambiguous Genitalia on Prenatal Ultrasound 11 Current use of Genetic testing in determining a specific diagnosis 13 The Importance of Prenatal Diagnosis in Cases of Ambiguous Genitalia 18 Significance for genetic counselors 19 Conclusions 20 Methodology 22 Systematic Review of the Literature 22 Chart Review 27 Algorithm & Analysis 29 Results 31 Analysis 52 Discussion 55 Appendix I: First Review Matrix Organization and summary of literature review articles 62 Appendix II: Second Review Matrix Organization and summary of case studies from the literature review 78 Appendix III: Third Review Matrix Organization and summary of chart review cases 94 References 102 !3 LIST OF TABLES ! !Table 1: Keyword Combinations for Literature Search 22 !Table 2: Example First Review Matrix 25 !Table 3: Example Second Review Matrix 25 !Table 4: Protocol Key 26 !Table 5: Example Third Review Matrix 29 Table 6: Imaging characteristics to differentiate cloacal exstrophy, bladder !exstrophy and cloacal malformation (Calvo-Garcia et al.
    [Show full text]
  • Genetic Counseling
    Genetic Counseling Brook Croke, MS, MPH Genetic Counselor [email protected] 618-581-9098 (cell) Overview Genetics – a Growing Field Genetic Counseling Applying to Programs Northwestern University Overview Genetics – a Growing Field Genetic Counseling Applying to Programs Northwestern University Cancer Genetics There are more than 50 well described genetic cancer susceptibility syndromes (Lindor NM et al., 2008, JNCI) Genetic counseling and testing shortly after cancer diagnosis can help guide patients’ surgical and treatment decisions. (Weitzel JN et al., 2003, Arch Surg; Schwartz MD et al., 2004, JCO) (Ashworth A, 2008, JCO; Ribic CM et al., 2003, NEJM; Sargent DJ et al., 2010, JCO) Personalized Med. 34% reduction in chemotherapy use would occur if women with breast cancer receive a genetic test prior to treatment. 17,000 strokes could be prevented each year if a genetic test is used to properly dose the blood thinner warfarin. Neurogenetics Ten neurogenetics tests in 1995, several hundred today (Charcot-Marie-Tooth neuropathy, hereditary ataxia, spas7c paraplegia, muscular dystrophy and early-onset demen7a) (Jayadev S, Smith CO, Bird TD. NeurogeneCcs: Five new things. Neurol Clin Pract 2011;1;41) Lifetime risk of developing Alzheimer disease (AD) is 10-12%. Few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients (Goldman et al. Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med 2011:13(6):597-605) Prenatal Genetics ACOG currently recommends that Down syndrome screening and invasive testing be offered to all women, regardless of age.
    [Show full text]
  • Practical Considerations in the Delivery of Genetic Counseling and Testing
    Review Practical considerations in the delivery of genetic counseling and testing services for inherited cancer predisposition Tuya Pal, MD,1 Cristi Radford, MS, CGC,1 Susan Vadaparampil, PhD, MPH,2 and Anya Prince, BA, JD, MPP3 Departments of 1 Cancer Epidemiology and 2 Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, Florida; 3 Cancer Legal Resource Center, Disability Rights Legal Center, Los Angeles Many professional entities endorse the need to deliver cancer genetics risk assessment (CGRA) services through a multidisciplinary team that includes trained genetics professionals. However, market forces, a lack of regulation of genetic testing, patent laws, cost barriers, and a limited workforce in genetics have resulted in an increasing number of community practitioners who order and interpret genetic testing. In addition, varying state-level laws and licensure requirements for genetic counselors may contribute to the nonuniform delivery of CGRA services across the United States. Those who perform genetic testing without having adequate training or expertise may incur liability risks. Moreover, the patient might not enjoy the maximum benefit of testing at the hands of an inadequately trained individual. In the setting of a limited number of professional who are trained in CGRA and a dearth of education and training resources, it is a challenge to integrate genetic testing services into clinical care. With advances in genomics and the implementation of personalized medicine, the problem will only be magnified, and it is critical that there are more opportunities for high quality education and training in clinical cancer genetics free of commercial bias. Successful strategies for delivering comprehensive CGRA services include academic-community partnerships that focus on collaboration with nongenetics providers or the inclusion of a genetics professional in the community setting as part of multidisciplinary patient care.
    [Show full text]
  • Genetic Testing for Reproductive Carrier Screening and Prenatal Diagnosis
    Medical Coverage Policy Effective Date ............................................. 7/15/2021 Next Review Date ......................................12/15/2021 Coverage Policy Number .................................. 0514 Genetic Testing for Reproductive Carrier Screening and Prenatal Diagnosis Table of Contents Related Coverage Resources Overview ........................................................ 2 Genetics Coverage Policy ............................................ 2 Genetic Testing Collateral File Genetic Counseling ...................................... 2 Recurrent Pregnancy Loss: Diagnosis and Treatment Germline Carrier Testing for Familial Infertility Services Disease .......................................................... 3 Preimplantation Genetic Testing of an Embryo........................................................... 4 Preimplantation Genetic Testing (PGT-A) .. 5 Sequencing–Based Non-Invasive Prenatal Testing (NIPT) ............................................... 5 Invasive Prenatal Testing of a Fetus .......... 6 Germline Mutation Reproductive Genetic Testing for Recurrent Pregnancy Loss ...... 6 Germline Mutation Reproductive Genetic Testing for Infertility ..................................... 7 General Background .................................... 8 Genetic Counseling ...................................... 8 Germline Genetic Testing ............................ 8 Carrier Testing for Familial Disease ........... 8 Preimplantation Genetic Testing of an Embryo..........................................................
    [Show full text]
  • A Survey of Genetic Counselors' Current Methods of Implementing
    A Survey of Genetic Counselors’ Current Methods of Implementing Telegenetics Services Thesis Presented in Partial Fulfillment of the Requirements for the Degree Master of Science in the Graduate School of The Ohio State University By Brenda Isabel Zuniga Graduate Program in Genetic Counseling The Ohio State University 2018 Master’s Examination Committee Kate Shane, MS, LGC, Advisor Dawn C. Allain, MS, LGC Lindsey Byrne, MS, LGC Kate Lynch, MS, LGC, Consultant Copyrighted by Brenda Isabel Zuniga 2018 2 Abstract The field of clinical genetics is rapidly evolving, leading to an increase in demand for genetic counseling services. The use of telegenetics allows genetic counselors and other genetics providers to increase access to services by facilitating the ability to communicate with patients across long distances and reach underserved populations. The aims of this study were to characterize the various components of the telegenetics delivery model, as well as describe the perceived benefits and limitations. Full members of the National Society of Genetic Counselors (NSGC) who currently provide telegenetic services or have previously provided telegenetic services to counsel patients were invited to participate in a web-based survey. Eligible respondents were asked to complete 48 items related to the logistics of the delivery of telegenetic services, perceived benefits and limitations, useful resources, and recommendations for improvement of the delivery of telegenetic services. One-hundred fifty-nine members of the NSGC responded. Fifty-two percent and 23.4% of respondents reported providing telegenetic services in the cancer and prenatal specialties respectively, the remainder reported providing telegenetic services in a variety of other specialties.
    [Show full text]
  • Genetic Counseling and Family Support for Sex Chromosome Aneuploidies
    Genetic Counseling and Family Support for Sex Chromosome Aneuploidies Consensus-based recommendations from the AXYS Clinic & Research Consortium Published December 2020 1 Introduction The National Society of Genetic Counselors (NSGC) defines genetic counseling as the process of “helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” According to the NSGC, this process includes: ● Interpreting family and medical histories to assess the chance of occurrence or recurrence of a disorder ● Educating families about inheritance ● Providing information on testing, management, prevention, resources, research, and counseling to promote informed choices and adaptation to the risk or condition In the US, genetic counselors are usually master’s level medical professionals who have a background in both clinical genetics and psychosocial counseling. These professionals are trained to assess and assist families coping with a genetic disorder. Genetic counselors provide a range of support including: ● Translating complex medical and genetic information ● Helping families with the emotional and psychosocial issues that come with a new diagnosis ● Helping families share information with extended family members ● Making referrals to medical and mental health specialists to ensure comprehensive care Genetic counselors typically work as part of health care teams, and can work in a variety of settings. Many genetic counselors partner with medical geneticists, perinatologists, obstetricians,
    [Show full text]
  • Prenatal Genetic Counseling Program Work and What Genetic Screening Can Help Reveal
    Pregnancy can be an exciting time for parents, but also a time of uncertainty— especially if there are genetic health concerns. The expert team of physicians and genetic We encourage patients to speak with their counselors at the Weill Cornell Medicine healthcare provider about their family history Prenatal Genetic Counseling Program work and what genetic screening can help reveal. closely with each patient to evaluate the To schedule an appointment chance that a pregnancy may be affected by a genetic condition, explain the limitations and with a genetic counselor, benefits of genetic testing, and assist with the please call 212-746-3045 interpretation of genetic testing results. Prenatal Genetic Counseling Program Genetic counselors are healthcare professionals with specialized education and training in genetics who provide information to guide and support What you should know about decisions being made about one’s genetic prenatal genetic screening health. You may consider seeing a genetic counselor if you: Call 212-746-3045 to Speak With a Genetic Counselor Today. - Want more information regarding genetic Notice of Nondiscrimination screening or diagnostic testing in pregnancy English 繁體中文 (Chinese) Weill Cornell Medicine complies with applicable Federal Weill Cornell Medicine 遵守適用的聯邦民權法律規定，不 - Have received an abnormal screening civil rights laws and does not discriminate on the basis of 因種族、膚色、民族血統、年齡、殘障或性別而歧視任何人。 or ultrasound result in pregnancy race, color, national origin, age, disability, or sex. 注意：如果您使用繁體中文，您可以免費獲得語言援助服 ATTENTION: If you speak another language, language 務。請致電 1-800-876-3059（TTY：1-212-477-0775）。 assistance services, free of charge, are available to you. Call 1-800-876-3059 (TTY: 1-212-477-0775).
    [Show full text]
  • May 30, 2017 Prenatal Genetic Testing
    May 30, 2017 Prenatal Genetic Testing: What Midwives and Clients Need to Know People seek genetic counseling or prenatal genetic testing for a variety of reasons, including a family history of a genetic condition or to learn more about factors that contribute to a higher chance for certain types of genetic conditions. While the personal beliefs and values of clients will ultimately determine their decisions regarding prenatal genetic testing, having timely access to accurate information regarding the purpose and types of testing available should also be part of their informed decision­ making. Midwives have an important role in providing basic Source: National Human Genome Research information about prenatal genetic Institute testing options and making referrals to genetics counselors when indicated. However, midwives' knowledge and utilization of genetics counselors and antenatal screening varies across the country, often influenced in part by whether midwives have integrated or streamlined access to the necessary services. The NACPM webinar, Genetic Testing in the Community Context, features Melissa Cheyney, PhD, CPM, LDM, and Jazmine Gabriel, PhD, MS, who will cover the basics regarding the various screening tests, the false positive rates, chance of miscarriage with diagnostic testing, and the utility of genetic information for pregnancy planning and improving birth outcomes. They will also report on their recent study of utilization of genetic counseling and antenatal testing among midwives in Vermont with a focus on the clinical and socio­political implications of this work. The webinar is offered live this Thursday, June 1, 2017 from 2:00 to 3:30 pm Eastern time and will be available as a recording the following week.
    [Show full text]
  • Genetic Counseling and Assisted Reproductive Technologies
    Downloaded from http://perspectivesinmedicine.cshlp.org/ on September 27, 2021 - Published by Cold Spring Harbor Laboratory Press Genetic Counseling and Assisted Reproductive Technologies Debra Lilienthal1 and Michelle Cahr2 1The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, New York 10021, USA 2California Cryobank Life Sciences, Los Angeles, California 90025, USA Correspondence: [email protected] Despite the ever-increasing number of patients undergoing fertility treatments and the ex- panded use of genetic testing in this context, there has been limited focus in the literature on the involvement of genetics professionals in the assisted reproductive technology (ART) setting. Here we discuss the importance of genetic counseling within reproductive medicine. We review how genetic testing of embryos is performed, the process of gamete donation, the challenges associated with genetic testing, and the complexities of genetic test result inter- pretation. n 2018, Louise Brown, the first child born from bearing, both of which correlate with reduced Iin vitro fertilization (IVF), turned 40 yr old fertility, these numbers are expected to continue (Steptoe and Edwards 1978; Fishel 2018). For to rise (Botting and Dunnell 2000; Armstrong people who were previously unable to have a and Akande 2013). biological child, the ability to conceive via IVF Advances in genetic testing have become in- meant that their dream of parenthood had a creasingly intertwined with the world of IVF, greater chance of becoming a reality. IVF has and are critical components of reproductive come a long way over the last four decades, medicine. Given the complexity of these ad- and the number of children born following the vances, the inclusion of trained genetics profes- use of assisted reproductive technology (ART) sionals within the field of ART is vital.
    [Show full text]
  • An Exploratory Study of the Likelihood of Adopting Genetic Counseling and Testing for Lynch Syndrome-Related Colorectal Cancer A
    An Exploratory Study of the Likelihood of Adopting Genetic Counseling and Testing for Lynch Syndrome-related Colorectal Cancer Among Primary Care Physicians in Florida Journal of Health Disparities Research and Practice Volume 13 Issue 3 Article 6 © Center for Health Disparities Research, School of Public Health, University of Nevada, Las Vegas 2020 An Exploratory Study of the Likelihood of Adopting Genetic Counseling and Testing for Lynch Syndrome-related Colorectal Cancer Among Primary Care Physicians in Florida Vanessa B. Crowther , Florida Agricultural and Mechanical University, [email protected] Sandra G. Suther , Florida Agricultural and Mechanical University, [email protected] Jullet A. Weaver , Florida Agricultural and Mechanical University, [email protected] See next page for additional authors Follow this and additional works at: https://digitalscholarship.unlv.edu/jhdrp Part of the Public Health Commons Recommended Citation Crowther, Vanessa B.; Suther, Sandra G.; Weaver, Jullet A.; Gwede, Clement K.; Dutton, Matthew; Cui, Dongming; and Lopez, Ivette A. (2020) "An Exploratory Study of the Likelihood of Adopting Genetic Counseling and Testing for Lynch Syndrome-related Colorectal Cancer Among Primary Care Physicians in Florida," Journal of Health Disparities Research and Practice: Vol. 13 : Iss. 3 , Article 6. Available at: https://digitalscholarship.unlv.edu/jhdrp/vol13/iss3/6 This Article is protected by copyright and/or related rights. It has been brought to you by Digital Scholarship@UNLV with permission from the rights-holder(s). You are free to use this Article in any way that is permitted by the copyright and related rights legislation that applies to your use. For other uses you need to obtain permission from the rights-holder(s) directly, unless additional rights are indicated by a Creative Commons license in the record and/ or on the work itself.
    [Show full text]
  • Prenatal Genetic Screening
    Prenatal Genetic Screening Study Group Module Prenatal Genetic Screening National Midwifery Institute, Inc. Study Group Coursework Syllabus Description: This module explores genetic screens and genetic tests during the perinatal period. It includes recommended reading materials in print and online, and asks students to complete short answer questions for assessment, long answer questions for deeper reflection, and learning activities/projects to deepen your hands-on direct application of key concepts. Learning Objectives: ● Review the Embryology and Fetal Development module. ● Identify family and health history issues that indicate genetic screening may be appropriate for your clients. ● Become familiar with counseling techniques and informed choice issues around choosing prenatal genetic screening. ● Examine your own bias and belief system about prenatal genetic testing. ● Understand what disorders can be detected by prenatal genetic screening. ● Identify the accuracy of prenatal genetic screening. ● Identify the different screenings and tests available to your clients for prenatal genetic screening. ● Understand the risks and benefits of each prenatal genetic screening/test. ● Identify the methods of pregnancy termination in each trimester. ● Identify community resources for genetic counseling, and advanced investigations. ● Review Grief module. ● Reflect on the tension between the disability justice movement and prenatal genetic screening Learning Activities: ● Research and read appropriate study sources, seeking out additional study
    [Show full text]