Prenatal diagnosis of craniofacial malformations with ultrasonography.

Although the utility of ultrasound in the prenatal diagnosis of many congenital anomalies is well established, its accuracy in detecting craniofacial malformations has not been examined in a large series. Sonographic examinations of 223 patients at risk for fetuses with craniofacial malformations were performed between 18 and 40 weeks. The risk factors included a familial history of craniofacial malformations, extrafacial anomalies diagnosed on ultrasound, fetal chromosomal aberrations, and maternal drug intake. Sonographic diagnosis was possible in 151 (67.7%) patients on the first scan and in 47 (21.1%) patients on the second scan and was not possible in 25 patients (11.2%). Of the 198 cases diagnosed antenatally, craniofacial malformation was detected in 14 and confirmed postnatally. No false positive diagnoses were made. A negative diagnosis of craniofacial malformation was made in 184 cases with two false negative results (1.0%). Anomalies diagnosed sonographically included anophthalmia, anterior cleft lip and/or palate, hypotelorism, hypertelorism, and micrognathia. The results of this study demonstrate that ultrasound is an accurate and reliable tool for the prenatal diagnosis of craniofacial malformations.