IMR Press / CEOG / Volume 45 / Issue 6 / DOI: 10.12891/ceog4528.2018

Clinical and Experimental Obstetrics & Gynecology (CEOG) is published by IMR Press from Volume 46 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on imrpress.com as a courtesy and upon agreement with S.O.G.

Open Access Case Report
A discordant case in which T21 positive and 47,XXY negative non-invasive prenatal testing result was associated with a 47,XXY mosaic fetus
Y. Zhou1, †Z. Xia1, †Y. Ge1Y. Yuan2F. Jiang2Q. Guo1, *
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1 United Diagnostic and Research Center for Clinical Genetics, School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital. Xiamen, Fujian, China
2 BGI, Shenzhen, Guangdong, China
† These authors contributed equally to this work.
Clin. Exp. Obstet. Gynecol. 2018, 45(6), 963–964; https://doi.org/10.12891/ceog4528.2018
Published: 10 December 2018
Abstract
The authors report a discordant case in which T21 positive and 47,XXY negative non-invasive prenatal testing (NIPT) result was associated with a 47,XXY mosaic fetus confirmed by karyotyping. By investigating the genetic cause, the initial evidence for T21 was demonstrated to be induced by the confined placental mosaicism; the initial lack of evidence for 47,XXY could be attributed to the relatively low effective fetal fraction. This case supported that confined placental mosaicism and low effective fetal fraction are major biological risk factors associated with discordant NIPT results, and provided an unusual case for pre- and post-test NIPT counseling.
Keywords
False negative
Fetal fraction
Mosaicism
Non-invasive prenatal testing
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