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Genetic tests aid in counseling of fetuses with cerebellar vermis defects

9 May 2020

Abstract excerpt

OBJECTIVE: To assess the value of chromosome microarray analysis (CMA) and whole exome sequencing (WES) in fetuses with cerebellar vermis defects (CVD). METHODS: From 2013 to 2019, we performed CMA on 43 fetuses with CVD, who were divided into cerebellar vermis hypoplasia (CVH) group and Dandy-Walker malformation (DWM) group according to morphological subtypes. Subsequently, WES was performed on 19 fetuses with...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 32386258
DOI: 10.1002/pd.5732

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