Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect

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Abstract
Objective: To report the antenatal detection rate in a consecutive series of liveborn infants with atrioventricular septal defect (AVSD). Design: Review and analysis of referrals for detailed fetal echocardiography and postnatal diagnosis of AVSD. Setting: Tertiary referral centre for congenital heart disease centre with data prospectively collected between 1996 to 2001. Results: 92 consecutively liveborn infants with AVSDs were identified of which 27 (29%) were detected by routine obstetric antenatal ultrasound. The antenatal diagnosis rate was worse for liveborn infants with trisomy 21 (12 of 49 (25%) v 15 of 43 (35%) chromosomally normal children) and for infants with AVSD without other structural heart disease (18 of 74 (24%) v 9 of 18 (50%) infants with associated structural heart disease). Conclusion: Despite the potential ability of fetal ultrasound to detect AVSDs, the antenatal diagnosis rate is poor. This is particularly true for infants with trisomy 21 and is of importance when counselling parents with an apparently normal fetal ultrasound scan.