Fetal facial abnormalities identified during obstetric sonography.

Abstract

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.

Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities

“…In contrast, Hegge et al [5], who examined a mixed low-and high-risk population of 7,100 fetuses, detected facial defects in only 11 (0.15%); in all cases there were additional malformations or polyhy dramnios or a history of maternal exposure to teratogens. In 1 case, a cleft palate was diagnosed postnatally.…”

Three‐dimensional multiplanar ultrasound is a valuable tool in the study of the fetal profile in the second trimester of pregnancy

“…Facial anomalies are usually diagnosed late in pregnancy, unless they are associated with other anomalies or with a positive family history5, 15, 24, 25. The continuing technical advances in 3D ultrasound and the development of normative measurements enable a quantitative approach.…”

Fetal Facial Abnormalities: From 2D Sonography to HDlive and HDlive Silhouette Mode

“…The importance of fetal face examination is that the detection of fetal anomalies can offer diagnostic clues for different chromosomal and genetic disorders. [3][4][5][6][7][8][9][10][11][12][13] This review considers fetal facial evaluation and related studies in line with the development of ultrasound from 2D to 3D, with its different rendering modes.…”