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MATERNAL/NEWBORN & NICU FELLOWSHIP Presented by COMMON CONGENITAL ANOMALIES Peg Peterson APRN

CONGENITAL-EXISTENCE AT OR BEFORE BIRTH

Congenital anomalies are also known as: • Birth Defects • Congenital Disorders • Congenital Malformations Structural/Anatomical • Heart Defects • Club Foot • Cleft Lip or Palate Functional • Metabolic Disorders Chromosomal • Down’s Syndrome

KEY FACTS

•An estimated 303,000 newborns die within the first 4 weeks of birth every year, worldwide, due to congenital anomalies •Congenital anomalies can contribute to long term disability, which may have significant impacts on families, individuals, health care systems and societies •The most common severe congenital anomalies are heart defects, neural tube defects and Downs syndrome •Congenital anomalies maybe the result of one or more genetic, infectious, nutritional, or environmental factor •Difficult to identify the exact cause

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CAUSES AND RISK FACTORS

50% of all congenital anomalies cannot be linked to a specific cause •Genetic Factors • Inherited genes that code for a specific anomaly • Result of a mutation • Consanguinity • Increases genetic anomalies, doubles risk of neonatal and childhood death • Ethnic • Ashkenazi Jews and Finns-Cystic Fibrosis, Hemophilia C • Socioeconomic Factors •Environmental Factors •Infections •Maternal Nutritional Status

PREVENTION

Some congenital anomalies can be prevented • Vaccinations • Congenital rubella • Heart problems, microcephaly, premature birth, stillborn, miscarriage • Adequate intake of folic acid • Neural tube defects • Adequate iodine intake • Neural development • Adequate antenatal care • STD treatment • Pre-conception counseling • Zika Virus • Environmental chemicals/pesticides • Work related

CONGENITAL HEART DEFECTS

•Occur in about 1 in 110 births •An Anatomical Abnormality •Prenatal Diagnosis • Cardiac development happens at 8 weeks gestation •Defects are classified as Cyanotic/Non Cyanotic •Most common anomaly is Ventral Septal Defect (VSD) •28% of children with CHD have another recognized anomaly (trisomy 21, 13, 18) •Children can become symptomatic any time in first year of life

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CONGENITAL HEART DEFECTS

Symptoms •Tachycardia •Tachypnea •Murmur •Failed Congenital Heart Disease Screening •Cyanosis •Cool clammy skin •Metabolic Acidosis •Failure to Thrive

CONGENITAL HEART DEFECTS

• PDA Increased • ASD Pulmonary Blood Flow • VSD * most common • AV Canal

• PS Classification Decreased • TOF Pulmonary of CHD Blood Flow • TGV • Truncus

Decreased • AS Systemic • HLHS Blood flow • CoA

NORMAL HEART

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PATENT DUCTUS ARTERIOSUS (PDA)

Failure to close after birth (usually closes first 12 hours after birth) Signs/Symptoms  Asymptomatic is ductus small  Can present with murmur on day 3 – 4  Wide pulse pressures  Bounding pulses Medical Management  O2 administration closes the PDA  Assess for murmur on day 3 -4  Monitor pulses, fluid, and respiratory status  May need addition PEEP  Indomethacin, Ibuprofen  Surgical ligation

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

ATRIAL SEPTAL DEFECT (ASD)

Hole in the muscular wall (30% will close on their own within 6 months) Signs/Symptoms  Usually asymptomatic  May hear murmur  Wide pulse pressures  Bounding pulses Medical Management  Assess for murmur on day 3 -4  Monitor pulses, fluid, and respiratory status  Restrict fluids, increase calories  Treat CHF if developed (rare)  Surgical repair done at school age

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

VENTRAL SEPTAL DEFECT (VSD)

Hole between ventricles (*most common CHD) Signs/Symptoms  Asymptomatic is small  Produces left to right shunt  Murmur  May have signs of CHF and FTT Medical Management  Depends on severity  Digoxin / diuretics  Increased calories  Most close spontaneously at school age  Surgical repair if not spontaneously closed by school age

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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ENDOCARDIAL CUSHION DEFECT (AV CANAL)

ASD, high VSD, and anomalies to tricuspid and mitral valves (may be partial or complete) 30 – 40% have Downs Syndrome Signs/Symptoms  Murmur  FTT  CHF at about 4 -12 weeks Medical Management  Treat CHF  Surgical repair at 3 – 6 months

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

PULMONARY STENOSIS (PS)

Obstructed RV outflow tract Signs/Symptoms  Asymptomatic if mild  Murmur  Desaturations Medical Management  Monitor pulmonary status  May require prostaglandins  Balloon valvuloplasty  Surgical repair at 1 – 4 years

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

TETRALOGY OF FALLOT CYANOTIC - DECREASED PULMONARY BLOOD FLOW

Four different defects (*most common cyanotic heart defect) Signs/Symptoms  1/3 of infants are cyanotic (“pink” vs “blue” depends on severity of PS  Harsh murmur  Increased RR, decreased pules, mottling of skin, polycythemia, metabolic acidosis  Often see boot-shaped heart on CXR Medical Management  Knee to chest position to increase SVR and venous return  May require prostaglandins (‘blue” tets)  Surgical repair not before 6 months

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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TRANSPOSITION OF GREAT ARTERIES CYANOTIC - DECREASED PULMONARY BLOOD FLOW

Most common cause of cyanosis in the newborn period (1:3300 US births) Signs/Symptoms  Will become symptomatic when ductus closes (between 1 day – 1 week) *need mixing  50% do not have murmur  Cyanosis with crying  Tachypnea  CHF Medical Management  Prostaglandins  Monitor O2, too much will close ductus  Maintain NTE  Surgical repair done in first two weeks of life

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

TRUNCUS ARTERIOSUS (TA)

Persistence of fetal structure (single outlet). There is always a large VSD Signs/Symptoms  May be cyanotic  CHF Medical Management  Monitor and treat CHF  Surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

AORTIC STENOSIS (AS)

Obstruction of aortic valve (blood not getting out to the body) Signs/Symptoms  Murmur  Decreased pulses  CHF Medical Management  Monitor and treat CHF  May require immediate surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

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HYPOPLASTIC LEFT HEART SYNDROME CYANOTIC - MIXED BLOOD FLOW

Includes varying degrees of MV atresia, hypoplastic LV, AS, and hypoplasia of the aorta. (*most common cause of death from cardiac defects in the first month of life) Signs/Symptoms  Murmur  Cyanosis, tachypnea, tachycardia, poor peripheral perfusion, metabolic acidosis Medical Management  3 options – Norwood, transplant, or no treatment  Prostaglandins  3-stage surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

COARCTATION OF THE AORTA (COA)

Narrowing of aorta (diminished blood to lower extremities) Signs/Symptoms  Murmur  Upper extremity BP greater than lower  Pulse discrepancies  Decreased urine output  CHF Medical Management  If suspected – 4 extremity BP  Prostaglandins  Monitor and treat CHF  May do balloon angioplasty  Surgical repair

UNIVERSITY OF MICHIGAN HEALTH SYSTEMS

CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)

CCHD Screens for 7 different types of CHD

•If baby is transferred back to M/B prior •Hypoplastic Left Heart Syndrome to 24 hrs of age, screening done by M/B •Pulmonary Atresia •In M/B – done between 36 – 48 hours of life •Tetralogy of Fallot •In NICU – done prior to discharge •Total Anomalus Pulmonary Venous Return •Failed test needs echocardiogram •Transposition of Great Arteries •Tricuspid Atresia •Truncus Arteriosus

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CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)

Negative Screen NORMAL Positive Screen ABNORMAL •O2 saturation ≥ 95% in right hand •O2 saturation < 90% in right hand and foot and foot NNP to assess / PCP notified and • • Echocardiogram ordered •O2 saturation ≤ 3% difference between right hand and foot If O2 sat 90% - 95% and > 3% difference – repeat screening 1 hour after initial screen No further follow needed

OMPHALOCELE

Failure of the intestine to return from the umbilical cord into the abdominal cavity • Covered in thin sac • 1:5500 - 800 per year in US • Look for midline defects Contributing Factors • Alcohol/Tobacco/SSRI use • Obesity Medical Management • Protect organs, decompression of the gut, adequate hydration • Thermoregulation • Surgical repair vs scarring of sac

OMPHALOCELE

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GASTROSCHISIS

Defect in abdominal wall allowing bowel outside of abdominal cavity • Protrudes thru hole beside umbilicus • 2000 cases in US a year • Poor abdominal growth Contributing Factors

Medical Management • Protect organs, decompression of the gut, adequate hydration • Thermoregulation • May require staged repair depending on size of defect (silo)

GASTROSCHISIS

TRACHEOESOPHAGEAL FISTULA (TEF)

Failure of trachea to differentiate and separate from the esophagus S/S • Maternal polyhydramnios • Need for frequent oral suctioning • Inability to pass ng/og • Choking, spitting, cyanosis Medical Management • At risk for aspiration pneumonia • Endotracheal suctioning • Surgical anastomosis

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TRACHEOESOPHAGEAL FISTULA (TEF)

DUODENAL ATRESIA

Absence or complete closure of a portion of the lumen of the duodenum • 1 in 6,000 – 10,000 live births • Nearly half are premature or low birth weight • 60 – 70% have associated anomalies (trisomy 21, malrotation, TE, CHD, imperforated anus, VACTERL, renal anomalies) S/S • Maternal polyhydramnios (significant risk factor) • Bilious vomiting • Failure to pass meconium • Double bubble on xray Medical Management • Gastric decompression (NG suction), hydration, management of electrolytes • Surgical repair

DUODENAL ATRESIA

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IMPERFORATE ANUS

Cause unknown, occurs 1 in every 20,000 live births • Broadly classified as high or low depending on relationship to the distal rectal pouch • ½ of babies have a fistula Medical Management • Colostomy required for decompression • Serial dilations for anal stenosis • Surgical repair • “Pull through” procedure at a year of age

CLEFT LIP AND PALATE

Anatomical abnormality at 7th week of gestation (cleft lip is the most common US isolated defect). May be associated with syndromes • 1 in 700 Caucasian babies, more frequent in Asian population, less frequent in African Americans • More common in IDM/Tobacco abuse • Valporic Acid use Medical Management • Surgical Repair of lip-3 months, palate repair 6-12 months • Feeding difficulties most common problem • Feed in sitting position • Special bottles • Breastfeeding slow to establish-pump and bottle feed until repair • Speech Pathologist / Dental followup

CLEFT LIP AND PALATE

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CHROMOSOMAL BIRTH DEFECTS TRISOMY 21 / DOWN SYNDROME

TRISOMY 21

Most Common Multiple Congenital Anomaly Syndrome that is diagnosed in Neonatal period • 1:650 live births • Mortality linked to Congenital Heart Disease/Leukemias • 50% have CHD • Hirschsprung’s Disease • Imperforate Anus • Atresias

TRISOMY 21

Clinical Presentation • Hypotonia • Excess skin at nape of neck • Flattened nose, upward slanting eyes • Small ears and mouth • Wide, short hands / fingers, Simian crease, wide space between first and second toes • Separated joints between the bones of the skull • Protrusion of tongue • White spots on the colored part of eye Medical Management • Feeding support • Developmental and education support

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CHROMOSOMAL BIRTH DEFECTS

TRISOMY 13 TRISOMY 18 •Most do not survive beyond 2 days (mean life •Most do not survive beyond 2 days (mean life expectancy is 130 days) expectancy is 48 days) •Occurs 1:12,000 births •Occurs 1:5,000 births Clinical Presentation Clinical Presentation • Weak cry • Holoprosencephaly, microcephaly • Microcephaly with sloping forehead • Small absent eyes, low set ears • Dysplastic ears, micrognathia • Cleft lip/palate • Cleft lip/palate • Single umbilical artery common • Single umbilical artery common • Growth deficiency • Growth deficiency • Overlapping digits • Overlapping and flexed digits • Club/Rocker bottom feet

GOMELLA, 2016

NEURAL TUBE DEFECTS MYELOMENIGOCELE

Spinal cord and meninges are exposed through the skin and onto the surface of the back • Occurs in about 1:2,000 births • Prevents backbone from closing completely • Folic acid has decreased incidence by half Medical Management • C-section delivery • Keep infant prone • Thermoregulation • Repair first 48 hours

NEURAL TUBE DEFECTS

MENIGIOCELE SPINA BIFIDA OCCULTA •Protrusion of the meninges •Gap in spine only •Fluid filled sac •Involves vertebral bone and is invisible •No nerve involvement

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MICROCEPHALY

Head circumference less than 3rd% for gestational age • Poor brain growth • Can be isolated finding • 2-12:10,000 US births • Viral-TORCH • Blood flow interruption Complication • Seizures • Developmental Delays • Hearing/Vision • Feeding problems • Outcome depends on severity

HYDROCEPHALUS

Excess amounts of CSF in ventricles of brain (blockage, decreased reabsorption, increase production) • 1 -2: 1,000 live births • Dandy-Walker cyst / Arnold-Chiari Malformation • Congenital infection (rubella) S/S • Large head, widened sutures • Full/ buldging fontanels • Increasing head circumference • Setting-sun eyes Medical Management • Cranial ultrasound/ CT • Careful positioning • Shunt placement • Serial taps

HYDROCEPHALUS

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REFERENCES

• Barfield, W. (2016) Late Preterm Infants. In Kim, M. (ed.), UpToDate. Retrieved from http://www.uptodate.com/home

• Karlsen, K., (2013). The s.t.a.b.l.e. program: guidelines for neonatal healthcare providers (6th ed). Salt Lake City, UT: Karlsen.

• Gardner, S. L., Carter, B. S., Hines, M. E. & Hernandez, J. A. (2016). Merenstein & gardner’s handbook of neonatal intensive care (8th ed.). St Louis, MO: Elsevier.

• Gomella, T., Cunningham, M. & Eyal, F. (2016) Neonatology: Management, procedure, on-call, problems, diseases, and drugs, 6th ed. New York, NY: The McGraw Hill Companies, Inc.

• Gomella, T. L. (2013). Neonatology: Management, procedures, on-call problems, diseases, and drugs (7th ed). New York, NY: McGraw Hill Education LLC.

• Verklan, M. T. & Walden, M. (2015) Core curriculum for intensive care nursing (5th ed). St. Louis, MO: Elsevier.

• http://www.marchofdimes.org/professionals/information-for-your-patients.aspx

• http://search.who.int/search?q=congenital+anomalies&ie=utf8&site=who&client=_en_r&proxystylesheet=_en_r&output=xml_no_dtd&oe =utf8&getfields=doctype

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