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Article

Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing.

American journal of obstetrics & gynecology MFM - 1 Aug 2020

Martin Kimberly A, Samango-Sprouse Carole A, Kantor Valerie, Dhamankar Rupin, Valenti Elizabeth, Trefogli Maria Teresa, Balosbalos Irish, Lagrave Danielle, Lyons Daniel, Kao Charlly, Hakonarson Hakon, Billings Paul R

Abstract excerpt

BACKGROUND: Maternal X chromosome abnormalities may cause discordant results between noninvasive prenatal screening tests and diagnostic evaluation of the fetus/newborn, leading to unnecessary invasive testing. Women with X chromosome abnormalities are at increased risk for reproductive, pregnancy, or other health complications, which may be reduced or ameliorated by early diagnosis, monitoring, and intervention....

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Share to Aneuploidy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 33345882
DOI: 10.1016/j.ajogmf.2020.100152

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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