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Radiology, Vol 194, 491-494, Copyright © 1995 by Radiological Society of North America

ARTICLES

Prenatally detected fetal myelomeningocele: is karyotype analysis warranted?

CJ Babcook, RB Goldstein and RA Filly
Department of Radiology, University of California, San Francisco.

PURPOSE: To determine the prevalence of karyotype abnormalities in fetuses with prenatally detected spina bifida and evaluate the ability of prenatal sonography to enable prediction of chromosomal abnormalities. MATERIALS AND METHODS: Sonograms from 63 fetuses with prenatally detected spina bifida were reviewed, and associated sonographic abnormalities were recorded. Sonographic findings were correlated with autopsy or clinical findings when possible. RESULTS: Associated sonographic abnormalities were present in 15 (24%) of fetuses with spina bifida. Among 52 fetuses with known karyotypes, the prevalence of chromosome abnormalities was 17%. Karyotype abnormalities included trisomy 18, trisomy 13, triploidy, and translocation. Twenty- two percent of chromosomally abnormal fetuses had sonographically isolated spina bifida. CONCLUSION: Prenatal sonography can help predict most karyotypically abnormal fetuses with spina bifida, but approximately 20% will be missed with this technique alone in the second trimester. The authors believe cytogenetic analysis is justified in the setting of prenatally detected spina bifida.




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