Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases.

From January 1990 until December 1996, 212 cases of neural tube defect (NTD) were seen through the Prenatal Diagnosis Program of the University of Toronto. Of the 212 cases, 200 were karyotyped successfully and of these, 13 (6.5%) had chromosome abnormalities. When classified according to the site of the NTD, 2.3% (2/88) of anencephalics, 7.1% (1/14) of encephaloceles, and 10.2% (10/98) of meningomyeloceles had abnormal karyotypes. The absence of associated ultrasound abnormalities was not necessarily predictive of a chromosomally normal fetus; 4/167 (2.4%) of fetuses with isolated NTDs had chromosome abnormalities. Conversely, 24/33 (72%) of fetuses with additional findings on ultrasound had normal chromosomes. The diagnosis of a chromosome abnormality associated with NTD has important implications for recurrence risk and prenatal diagnosis, not only for the parents but potentially for other relatives. Based on our finding that 6.5% of prenatally detected NTDs are associated with chromosome abnormalities, we recommend karyotyping of all fetuses and/or newborns with NTD.