Fetal facial abnormalities identified during obstetric sonography.
The orbits and, if readily accessible, the facial profile were visualized as part of a brief fetal anatomy survey during approximately 7100 low-risk and high-risk obstetric sonographic examinations. This examination identified 17 facial abnormalities in 11 fetuses. There were seven abnormalities of the eyes, including three instances of absence of both eyes, two of hypertelorism, one of proptosis, and one of relative prominence. There were seven abnormalities of the nose, including three instances of marked flattening, one of absence, one of a proboscis, one of a single nostril, and one of a sunken appearance. There were two abnormally small chins. There was one marked cleft that involved the nose, lip, and palate. At least two fetuses with abnormal faces were missed entirely and coexistent facial abnormalities were missed in another three fetuses. Of the 11 fetuses with facial abnormalities identified, eight had other structural abnormalities as well, and the other three had either polyhydramnios or a history of teratogen exposure. A brief facial examination done as part of the fetal anatomy survey helps to identify abnormalities in high-risk fetuses but is considerably less productive in low-risk fetuses.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography