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Objective: To determine the relationship between trisomies 13, 18, and 21 and craniofacial malformations detected by prenatal sonography. Design: During a 29-year period (1976 through 2004), prenatal sonographic findings of 69 fetuses with trisomy 13; 171 fetuses with trisomy 18; 302 fetuses with trisomy 21; and 17 fetuses with other trisomies were evaluated retrospectively, after fetal karyotype identification. Sonographic findings were compared with autopsy results in 209 patients (trisomy 13, n  =  39; trisomy 18, n  =  64; and trisomy 21, n  =  106). Results: For trisomy 13, cleft deformities were detected prenatally in 65.2%, and of the 39 cases with pathological information, 76.9% were found to have a cleft deformity. Ocular and orbital abnormalities were found in 28%. Malformations of the jaws and abnormal profiles were more frequently diagnosed postnatally than prenatally. For trisomy 18, abnormal profiles (41.5%) and ear abnormalities (5.3%) were the most noticeable ultrasound markers, n...

Prenatal Diagnosis of Craniomaxillofacial Malformations: A Characterization of Phenotypes in Trisomies 13, 18, and 21 by Ultrasound and Pathology