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  • Title: Prenatally detected fetal myelomeningocele: is karyotype analysis warranted?
    Author: Babcook CJ, Goldstein RB, Filly RA.
    Journal: Radiology; 1995 Feb; 194(2):491-4. PubMed ID: 7824730.
    Abstract:
    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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