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 scans performed in our department. Anomalies were detected in 24 fetuses. All findings were subsequently confirmed. Micrognathia was the most common finding, 38% of these had an abnormal karyotype, and 45% had a recognized skeletal dysplasia. Facial clefting was also commonly seen, both in isolation and associated with other abnormalities. When associated with other abnormalities, 40% of cases with facial clefting had a chromosomal abnormality indicating a need for karyotype analysis in these patients. Other anomalies detected included cebocephaly, hypotelorism, frontal bossing, exophthalmos and hypertelorism. We feel that visualization of the fetal face is an essential part of the assessment of intracranial abnormalities and is valuable in any situation where a chromosomal abnormality or a skeletal dysplasia is suspected.