1/7/2020 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 1 1/7/2020 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 2 1/7/2020 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 3 1/7/2020 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 4 1/7/2020 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 5 1/7/2020 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 6 1/7/2020 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 7 1/7/2020 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 8 1/7/2020 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 9 1/7/2020 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 10 1/7/2020 IMPERFORATE ANUS Cause unknown, occurs 1 in every 20,000 live births • Broadly classified as high or low depending on relationship to the distal