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Prenatal exome sequencing analysis in fetuses with central nervous system anomalies

19 May 2023

Abstract excerpt

OBJECTIVE: To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central nervous system (CNS) abnormalities. METHODS: This was a retrospective cohort study of fetuses identified to have CNS abnormality on prenatal ultrasound and/or magnetic resonance imaging. All fetuses were first analyzed by chromosomal microarray analysis (CMA). Fetuses with a confirmed aneuploidy or causal pathogenic...

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PMID: 37204857
DOI: 10.1002/uog.26254

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