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SMFM Fetal Anomalies Consult Series #1: Facial Anomalies

Anomalies of the fetal face can be isolated or a component of a complex syndrome. The syndromic involvement of multiple other organ systems can result in adverse outcomes. Evaluation of the fetal face is a basic part of the sonographic fetal survey, and detection of fetal facial anomalies is a key component of prenatal diagnosis. A standard obstetric ultrasound examination requires only evaluation of the upper lip and is suboptimal for the identification of a range of fetal facial anomalies. A detailed obstetric ultrasound examination is more comprehensive and is required if a facial cleft or other facial dysmorphologic condition is suspected on the standard obstetric anatomic scan or if the patient is at risk based on medical or family history. A detailed obstetric ultrasound examination of the face includes the profile, nose, lips, orbits and lenses, palate, maxilla, mandible, and tongue as well as the size and position of the fetal ears, depending on clinical suspicion.

This series reviews the sonographic diagnosis, genetic evaluation, and potential treatment and outcome of the following facial abnormalities:

  • Absent nasal bone
  • Paramedian orofacial cleft 
  • Micrognathia 
  • Hypotelorism 
  • Hypertelorism 
  • Anophthalmia and microphthalmia 
  • Median facial cleft