PRENATAL-DIAGNOSIS OF AN 8P23.1 DELETION IN A FETUS WITH A DIAPHRAGMATIC-HERNIA AND REVIEW OF THE LITERATURE

The prenatal diagnosis of an 8p23.1 deletion is reported. The diagnosi s was ascertained at 22 weeks of gestation because of the discovery of a diaphragmatic hernia at ultrasound. Following cytogenetic studies a nd counselling, the pregnancy was terminated. An autopsy confirmed the presence of a diaphragmatic hernia and revealed also the existence of an atrio-ventricular canal (AVC) and an atrial septal defect (ASD). T he clinical features of this antenatally diagnosed case are compared w ith those observed in 16 previously reported cases with an identical d eletion of the short arm of chromosome 8. This suggests that a deletio n 8p23.1 should be considered whenever a diaphragmatic hernia and/or a n AVC is detected on ultrasound. (C) 1998 John Wiley & Sons, Ltd.