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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

29 Nov 2020

Abstract excerpt

INTRODUCTION: The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results. MATERIAL AND METHODS: In the period 2013-2016, 391 pregnant women with fetal ultrasound anomalies who received normal chromosomal microarray results, were referred for...

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Fetal and Pediatric Neurological Disorders
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33249554
DOI: 10.1111/aogs.14053

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