14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.

A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis. The baby was born at 37 weeks and died spontaneously during labour. This is the first report of prenatal diagnosis of a terminal 14q deletion.