Atrioventricular septal defect in the fetus

OBJECTIVE: I sought to study the spectrum of disease and outcome seen with atrioventricular septal defect in fetal life and to analyze the current rate of prenatal detection of this malformation. STUDY DESIGN: All cases of atrioventricular septal defect detected prenatally or in infants were ascertained between 1994 and 1998. RESULTS: An atrioventricular septal defect was detected in 49 fetuses and in a further 63 infants during this 5-year period. Among the 49 fetuses the atrioventricular septal defect was the only heart malformation in 18 (with Down syndrome in 13/18) and associated with a heterotaxia syndrome in 22, left ventricular malformations in 8, and the tetralogy of Fallot in 1. There were 23 survivors among the 49 fetuses. CONCLUSION: Despite the fact that an atrioventricular septal defect is detectable by 4-chamber view screening and this view is recommended as part of obstetric ultrasonographic evaluation, the rate of detection of this lesion prenatally is currently <50%. The recognition of this lesion has important implications for the fetus.