Early sonographic detection of recurrent fetal eye anomalies

Objective To determine the possible association between congenital eye anomaly of a previous child in the family and current congenital eye anomaly. Methods An early transvaginal anomaly scan at 14-16 gestational weeks was used to diagnose fetal eye anomalies in five cases in which at least one previous child in the family had the same congenital eye anomaly. Results At least one cataract was detected in four of the five fetuses and bilateral anophthalmia in one. The congenital cataract in one case was part of multiple pterygium syndrome. Both of these extremely rare malformations are commonly associated with other fetal anomalies. Conclusion Our data suggest that a detailed targeted ultrasound survey with a special focus on the orbital region should be offered at the time of genetic counseling to couples with children with congenital eye anomalies. Copyright (C) 2004 ISUOG. Published by John Wiley Sons, Ltd.