Prenatal diagnosis of facial malformations

In a prospective study, 5407 pregnant women were screened by ultrasound to detect malformations of the fetal face. Of a total of 11 facial anomalies, eight were detected by prenatal ultrasound (72 per cent). Three pregnancies were terminated because of associated developmental abnormalities or aneuploidy. In all of them, the facial malformations were correctly diagnosed. When associated with other developmental abnormalities, facial malformations were picked up at a rate of 100 per cent. Isolated facial malformations, by contrast, were detected in no more than 50 per cent of cases. Eight cases with suspected facial dysmorphism ended with the delivery of normal babies (specificity 99.8 per cent). None of them prompted karyotyping or any other invasive testing. Only two correctly detected facial malformations (bilateral cleft lips/palate) had a minor influence on obstetrical management. There would not have been disadvantages for the newborns in any of the cases if the malformations had been missed.