Prenatally detected fetal myelomeningocele: is karyotype analysis warranted?

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.

journal_name

Radiology

journal_title

Radiology

authors

Babcook CJ,Goldstein RB,Filly RA

doi

10.1148/radiology.194.2.7824730

subject

Has Abstract

pub_date

1995-02-01 00:00:00

pages

491-4

issue

2

eissn

0033-8419

issn

1527-1315

journal_volume

194

pub_type

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