Screening for Critical Congenital Heart Disease Caroline K. Lee, MD Pediatric Cardiology Disclosures I have no relevant financial relationships or conflicts of interest 1
Most Common Birth Defect Most Common CHD Lesions Ventricular septal defect 30% L R shunt Atrial septal defect 10% L R shunt Patent ductus arteriosus 10% L R shunt Pulmonary stenosis 7% Obstructive lesion Coarctation of the aorta 7% Obstructive lesion Aortic stenosis 6% Obstructive lesion Tetralogy of Fallot 6% Cyanotic lesion D-Transposition of the 4% Cyanotic lesion Great Arteries Other 20% (including Single ventricle lesions) 2
Critical CHD Lesions that require surgery or catheterization intervention in 1 st yr of life 1/4 of heart defects Leading cause of infant death Incidence per Livebirths CCHD 2/1000 Congenital hearing loss 2-4/1000 Congenital hypothyroidism 0.4/1000 Cystic fibrosis 0.4/1000 Phenylketonuria 1/10,000-1/20,000 Congenital adrenal hyperplasia 1/15,000 Galactosemia 1/60,000 3
The Problem UK: 25% of infants with CCHD not diagnosed until after discharge from NBN 1 Incidence of severe physiologic compromise from unrecognized CCHD estimated 1/15,000-1/26,000 livebirths 2 1. Wren C, et al. Arch Dis Child Fetal Neonatal Ed. 2008;93:F33 2. Schultz AH, et al. Pediatrics. 2008;121:751 Case 1: A Near-Miss A 2do newborn boy was being discharged home with his first-time parents after a smooth pregnancy, labor and delivery. A newborn nursery nurse accompanied the family to their car and as she placed the baby in the car seat, she noted his color appeared dusky and blue. She insisted they return back to the nursery. His O2 saturation was found to be 78%. Echocardiogram revealed hypoplastic left heart syndrome 4
Case 2: Fussy Baby at Home 9do former term baby boy presented to his PCP with 1d h/o irritability and poor feeding, decreased UOP, lethargy He had nasal flaring, retractions, gallop but no murmur, poor perfusion, capillary refill 4 seconds Sent to local ED where lactate 5, ABG (radial) 7.10/50/120/12/-16, Cr 0.9, AST 171, ALT 179 Echocardiogram: severe coarctation of the aorta, poor LV function Critical CHD Lesions D-Transposition of the great arteries Tetralogy of Fallot Hypoplastic left heart syndrome Truncus arteriosus Tricuspid atresia Total anomalous pulmonary venous return Pulmonary atresia/intact ventricular septum Double outlet right ventricle Single ventricle Coarctation of the aorta Interrupted aortic arch Ebstein s anomaly of the tricuspid valve CDC 5
Critical CHD Lesions *D-Transposition of the great arteries *Tetralogy of Fallot *Hypoplastic left heart syndrome *Truncus arteriosus *Tricuspid atresia *Total anomalous pulmonary venous return *Pulmonary atresia/intact ventricular septum Double outlet right ventricle Single ventricle Coarctation of the aorta Interrupted aortic arch Ebstein s anomaly of the tricuspid valve * Targets for CCHD pulse oximetry screening Truncus arteriosus Tricuspid atresia Tetralogy of Fallot TAPVR Transposition of GA 6
Transitional Circulation Change in hemodynamics from fetal to post-natal life Pulmonary changes Pulmonary blood flow Pulm vascular resistance Closure of PDA Ductus Arteriosus Fetal connection from pulmonary artery to descending aorta 7
Ductus Arteriosus in CCHD May provide pulmonary blood flow (e.g., pulmonary atresia) or systemic blood flow (e.g., HLHS) Prostaglandin (PGE 1 ) to keep patent L R R L Differential Pre- and Post-ductal O2 Sats O2 sat in LE < UE R hand 98% Arch obstruction Critical coarctation Interrupted aortic arch Ductus arteriosus R L Also can be seen in persistent pulmonary htn of newborn (PPHN) Foot 92% 8
Detection of CCHD Prenatal ultrasound Presentation after birth Newborn Pulse Oximetry Screening (Desaturations, differential pre- and post-ductal saturations) *Not all CCHD will be picked up by pulse ox screening* Detection of CCHD Prenatal ultrasound Presentation after birth Newborn Pulse Oximetry Screening (Desaturations, differential pre- and post-ductal saturations) 9
Prenatal Ultrasound Screening Pregnant women undergo routine obstetrical ultrasound for fetal anatomical evaluation at 18-22 weeks gestation If cardiac abnormality suspected referral for fetal echocardiogram Antenatal Detection Rates Detection rates of fetal cardiac abnormalities vary widely (15-48% reported) Largely dependent on the skill of the sonographers performing routine obstetric scans 10
Neonates (<30d) undergoing Cardiac Surgery for CCHD SLCH Why are Diagnoses Missed Prenatally? (Including Major Ones!) Standard for Routine Screening Fetal Ultrasound The basic cardiac examination includes a 4-chamber view of the fetal heart. If technically feasible, an extended basic cardiac examination can also be attempted to evaluate both outflow tracts. Guidelines for Standard Examination of the fetus (Level 1 ultrasound) published by the American Institute of Ultrasound in Medicine, American College of Radiology (2003), and the American College of Obstetricians and Gynecologists (2004) 11
What Can Easily be Missed! Dxs by 4-ChView Alone Dxs Missed w/ 4-Ch View Alone Complete AV Canal D-Transposition of the Great Arteries * Single ventricle lesions (e.g., Tetralogy of Fallot * HLHS, Tricuspid atresia) Ebstein anomaly of tricuspid valve Truncus Arteriosus Possibly VSD Double outlet right ventricle (DORV) Pulmonary stenosis Aortic stenosis VSD (perimembranous, subarterial) *Most common cyanotic CHDs Possibly ductal-dependent 12
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Was There a Prenatal Dx? SLCH data, 2008-2012 Effects of Prenatal Dx of CHD Allows for parental counseling and preparation Allows parents to consider all options, including interruption of pregnancy Optimize delivery (tertiary hospital, induction) and care after birth Neonatal intervention set up (prostaglandins for ductal-dependent lesions, cath lab for atrial septostomy) 15
Effects of Prenatal Dx of CHD ±Better outcomes: avoids hypoxemia, acidosis, shock, respiratory distress, endorgan injury that may ensue with delayed diagnosis. Better pre-operative state. May allow for fetal intervention Increases maternal anxiety and stress Detection of CCHD Prenatal ultrasound Presentation after birth Newborn Pulse Oximetry Screening (Desaturations, differential pre- and post-ductal saturations) 16
Clinical Presentation of CCHD Sign/symptom Cyanosis Limitations of Physical Exam Difficult to detect on exam Murmur Not always present in CCHD Conversely, neonatal murmurs are often innocent Clinical Presentation of CCHD Sign/symptom Decreased LE pulses/poor systemic perfusion Respiratory symptoms (tachypnea, distress) Hypoxemia Differential pre- and post-ductal O2 saturations Limitations of Physical Exam Patent ductus arteriosus masks absent LE pulses Infants discharged before transitional circulation complete Can be picked up by pulse oximetry 17
Detection of CCHD Prenatal ultrasound Presentation after birth Newborn Pulse Oximetry Screening (Desaturations, differential pre- and post-ductal saturations) *Not all CCHD will be picked up by pulse ox screening* Pulse Oximetry Screening Rationale: antenatal screening and PE are not sufficient to detect all CCHD Most CCHD have some degree of hypoxemia Non-invasive, easy to do, high accuracy 18
NOAH prenatally diagnosed with a complex single ventricle defect 19