Major craniofacial defects: case series and prenatal diagnosis at the Instituto Nacional de Perinatología, Mexico.

Objective: To describe the prenatal diagnosis, characteristics, development, perinatal outcome, and final diagnosis of pregnancies complicated by fetuses with major craniofacial defects, at the Instituto Nacional de Perinatologia, México, 1997-2008.

Material And Methods: A retrospective, descriptive study from January of 1997 to January 2008, analyzed 152 pregnancies complicated by fetuses with major craniofacial defects, diagnosed at the Department of Fetal Medicine of the National Institute of Perinatology. Data were obtained from patients clinical records.

Results: . The mean age was 28 +/- 8 years, with the largest number of cases between 20 and 24. The mean gestational age at diagnosis was 27.5 +/- 6.4 gestational weeks. The average termination of pregnancy was at 35 +/- 5 gestational weeks. In 43.4% of cases there were no major structural defects associated with the facial defect. The most commonly associated structural alterations were cerebral, cardiac, and limb abnormalities. Karyotyping was performed in only 57 cases, and was abnormal in 25.

Conclusions: Structural ultrasound should be performed on all pregnant women between weeks 18 and 24 for detection of major craniofacial defects. Where defects are found, a thorough review of other structures should be carried out to determine whether the defects are syndromic. A systematic and multidisciplinary approach is essential to providing the best care and appropriate advice to parents.