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Whole‐exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography

21 May 2020

Abstract excerpt

OBJECTIVE: We aimed to investigate the value of whole-exome sequencing (WES) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with or without other structural anomalies but with normal findings upon karyotyping and chromosome microarray analysis (CMA). METHODS: Cases with CAKUT with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping...

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PMID: 32436246
DOI: 10.1002/pd.5737

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