Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Wang, Yanlin; Chen, Yan; Tian, Feng; Zhang, Jianguang; Song, Zhuo; Wu, Yi; Han, Xu; Hu, Wenjing; Ma, Duan; S. Cram, David; Cheng, Weiwei

doi:10.1373/clinchem.2013.215145

Public

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Published in Clinical Chemistry • Nov 6, 2013

Authors:

Yanlin Wang

Yan Chen

Feng Tian

Abstract

BACKGROUND: In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher th...

Subject

Karyotype

Cell-free fetal DNA

Biology

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