Prenatal diagnosis of complete atrioventricular septal defect: perinatal and neonatal outcomes

Objective. The purpose of this study was to establish the outlook for fetuses diagnosed with complete atrioventricular septal defect (cAVSD) prenatally and its relation to additional cardiac, extracardiac, and chromosomal abnormalities. Methods. We retrospectively reviewed fetal echocardiograms diagnosed with cAVSD from January 2002 to December 2007, comparing fetuses with and without aneuploidy. Results. Complete antrioventricular septal defect was confirmed in 62 fetuses. Mean maternal age was 28.79 +/- 4.78 years (range 20-38). Mean gestational age was 23.69 +/- 5.48 weeks (range 12-38). Fetal karyotype was known in all fetuses. An abnormal karyotype was found in 21 fetuses. Complete AVSD occurred without any other intracardiac abnormality in 28 fetuses. Extracardiac anomalies were present in 38 fetuses. As for pregnancy outcomes, there were 36 (58%) terminations of pregnancy and 4 (6.4%) intrauterine fetal deaths. In these four fetuses, complex cAVSD was associated with atrioventricular block (one case), heterotaxy (one case), and fetal hydrops (two cases). Of the 22 live births, 5 were neonatal deaths without surgery while 17 babies underwent surgery and 13 have survived to date. The mean survival age was 53 +/- 4 months (range 22-64 m). Conclusion. AVSD is associated with chromosomal, other cardiac, and extracardiac abnormalities. The detection of these abnormalities is important in order to give the best indication of the likely outcome when counselling parents.