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Prenatal Screening for Major Congenital Heart Disease

Superiority of Outflow Tracts Over the 4-Chamber View

Division of Pediatric Cardiology, Department of Pediatrics, Childrens Hospital Los Angeles, Los Angeles, California USA (M.S.S., D.P.B., J.D.P.); and Division of Pediatric Cardiology, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California USA (R.-K.R.C.).

Address correspondence to Mark S. Sklansky, MD, Division of Pediatric Cardiology, Childrens Hospital Los Angeles, 4650 Sunset Blvd, Mail Stop 34, Los Angeles, CA 90027 USA. E-mail: msklansky{at}chla.usc.edu

Objective. The purpose of this study was to determine the relative importance of the 4-chamber view (4CV) compared with the outflow tract views (OFTVs) in prenatal screening for major congenital heart disease (CHD). Methods. We prospectively evaluated 200 consecutive infants undergoing cardiac surgery at our institution for major CHD. By reviewing the infants’ medical records and conducting bedside interviews with their parents or guardians, we evaluated detection rates both prenatally and postnatally (before and after discharge to home), and we noted any prenatally identifiable risk factors for CHD. For each infant, we determined whether the 4CV or OFTVs would be expected to have been normal or abnormal on routine midgestation screening fetal sonography. Results. A prenatal diagnosis of CHD was made in 65 infants (33%): 30 of 124 low-risk pregnancies (24%) and 35 of 76 high-risk pregnancies (46%). An abnormal screening midgestation 4CV would have been expected in up to 63% of the infants, whereas abnormal midgestation OFTVs would have been expected in up to 91% of the infants. Thus, the potential sensitivity for detecting major CHD was higher with the OFTVs than with the 4CV (91% versus 63%; P < .001). Moreover, the OFTVs were more sensitive than the 4CV for detecting ductal-dependent forms of CHD. Diagnosis after discharge to home occurred in 39 of 135 postnatal diagnoses (29%), including many cases of isolated outflow tract abnormalities requiring early invasive intervention. Conclusions. Cases of major neonatal CHD with OFTV abnormalities predominate over cases with 4CV abnormalities, particularly among those forms of CHD requiring early invasive intervention.

Key Words: congenital heart disease • fetal heart • 4-chamber view • outflow tracts • prenatal screening

Abbreviations: AS, aortic stenosis • AVC, atrioventricular canal • CHD, congenital heart disease • CoA, coarctation of the aorta • DORV, double-outlet right ventricle • 4CV, 4-chamber view • HLHS, hypoplastic left heart syndrome • IAA, interrupted aortic arch • OFTV, outflow tract view • PA, pulmonary atresia • PS, pulmonary stenosis • TA, tricuspid atresia • TGA, D-transposition of the great arteries • TOF, tetralogy of Fallot • VSD, ventricular septal defect