Fetal facial abnormalities identified during obstetric sonography

Area of Science:

• Medical Imaging
• Prenatal Diagnosis
• Fetal Medicine

Background:

• Routine obstetric sonography includes a brief assessment of fetal facial structures.
• Identifying fetal facial abnormalities aids in early diagnosis and management.

Purpose of the Study:

• To evaluate the effectiveness of a brief fetal facial examination during routine obstetric sonography.
• To determine the yield of detecting facial abnormalities in low-risk versus high-risk pregnancies.

Main Methods:

• Sonographic examinations of fetal orbits and facial profiles were performed.
• Approximately 7100 low-risk and high-risk obstetric sonographic examinations were reviewed.
• Identified facial abnormalities were categorized by type and location.

Main Results:

• 17 facial abnormalities were identified in 11 fetuses.
• Common findings included eye abnormalities (e.g., anophthalia, hypertelorism) and nasal abnormalities (e.g., flattening, absence).
• The brief examination missed some cases and coexistent abnormalities, with lower detection rates in low-risk fetuses.

Conclusions:

• A brief facial examination as part of a fetal anatomy survey is beneficial for identifying abnormalities in high-risk fetuses.
• This screening approach is less productive in low-risk fetuses.
• Further investigation is warranted for subtle or missed facial anomalies.