To analyze the prenatal sonographic features of facial anomalies and evaluate the relationship between facial anomalies and increased nuchal translucency.

Pregnant women coming to Shenzhen Maternity and Child Healthcare Hospital affiliated to Nanfang Medical University between October 2008 and December 2012 for the 11th-13th⁺⁶ gestational week scanning were included in this study. Fetal facial region was evaluated by the technique of cross-sectional view of the fetal lateral ventricle with probe tilting. Comparative analysis was performed on autopsy and prenatal ultrasonograpgy.

The prenatal ultrasonic results of 10 518 fetus: 10 343 fetus (98.3%, 10 343/10 518) were confirmed as facial normal with the technique of cross-sectional view of the fetal lateral ventricle with probe tilting at the first trimester. Twenty-eight cases of facial malformation were confirmed at the first trimester (8 cases of cleft lip/plate, 14 cases of absence of nasal bone, 5 cases of holoprosencephaly facial feature and 1 cases of irregular facial cleft). Forty-nine cases of facial malformation were confirmed by postnatal evaluation or autopsy (the incidence was 0.47%, 49/10 518 ). Twenty-one cases were misdiagnosed (11 cases of cleft lip/plate, 7 cases of ear deformity, 2 cases of micrognathia and 1 cases of irregular facial cleft). Ultrasonic soft marker: 34 cases were combined with abnormal soft marker (69.4%, 34/49), 22 cases of various kinds of facial malformation were combined with other structural deformity. Twenty-three cases were combined with increased nuchal translucency. Fourteen cases of absence of nasal bone were detected in the first trimester, including twelve cases of increased nuchal translucency, six cases of structural deformity, two cases of chromosomal abnormalities (21-trisomy). Five cases of holoprosencephaly facial feature were detected in the first trimester, including three cases of increased nuchal translucency and structural deformity. Eight cases of cleft lip/plate were detected in the first trimester, including five cases of increased nuchal translucency. One cases of irregular facial cleft were detected in the first trimester, who was combined with structural deformity and increased nuchal translucency. Postpartum examination showed: there were 25 cases of simple facial anomaly, 22 cases were combined with structural deformity (9 cases of cardiac defect and 8 cases of holoprosencephaly), there were 2 cases of chromsomal abnormalities. The results showed that increased nuchal translucency had certain relationship with facial anomaly. The value of nuchal translucency of facial anomalies fetus was apparently higher than that of normal fetus and fetus with simply facial anomalies. There was no significant difference between normal fetus and fetus with simply facial anomalies.

Findings of holoprosencephaly and cardiac defects is a significant clue for diagnosing facial anomalies. Fetuses with cleft palate/lip have an abnormal configuration of the retronasal triangle. Cross-sectional view of the fetal lateral ventricle with probe tilting caudal slightly technique is an important method to screen fetal facial malformation in the first trimester.