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Article

Sex discordance identification following non‐invasive prenatal testing

13 Nov 2017

Abstract excerpt

OBJECTIVE: The objectives of this study were to characterise genotype-phenotype discordance identified in the routine clinical setting and to explore the associated diagnostic and counselling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multisite specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Share to Prenatal Screening and Diagnostics
Share to Sexual Differentiation and Disorders

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PMID: 29131362
DOI: 10.1002/pd.5184

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