THE FACIAL PROFILE IN THE DIAGNOSIS OF FETAL ABNORMALITIES

In order to assess the significance of fetal facial anomalies detected by ultrasound, a 4 year review was made of all detailed antenatal sca ns performed in our department. Anomalies were detected in 24 fetuses. All findings were subsequently confirmed. Micrognathia was the most c ommon finding, 38% of these had an abnormal karyotype, and 45% had a r ecognized skeletal dysplasia. Facial clefting was also commonly seen, both in isolation and associated with other abnormalities. When associ ated with other abnormalities, 40% of cases with facial clefting had a chromosomal abnormality indicating a need for karyotype analysis in t hese patients. Other anomalies detected included cebocephaly, hypotelo rism, frontal bossing, exophthalmos and hypertelorism. We feel that vi sualization of the fetal face is an essential part of the assessment o f intracranial abnormalities and is valuable in any situation where a chromosomal abnormality or a skeletal dysplasia is suspected.