Babcook C J, Goldstein R B, Filly R A
Department of Radiology, University of California, San Francisco.
Radiology. 1995 Feb;194(2):491-4. doi: 10.1148/radiology.194.2.7824730.
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.
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.
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.
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.
确定产前检测出脊柱裂的胎儿中核型异常的患病率，并评估产前超声检查预测染色体异常的能力。
回顾了63例产前检测出脊柱裂的胎儿的超声图像，并记录相关的超声异常情况。尽可能将超声检查结果与尸检或临床检查结果进行对比。
15例（24%）脊柱裂胎儿存在相关超声异常。在52例已知核型的胎儿中，染色体异常的患病率为17%。核型异常包括18三体、13三体、三倍体和易位。22%染色体异常的胎儿超声检查仅发现脊柱裂。
产前超声检查有助于预测大多数核型异常的脊柱裂胎儿，但仅靠这项技术在孕中期大约会漏诊20%的病例。作者认为，在产前检测出脊柱裂的情况下，进行细胞遗传学分析是合理的。
