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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
J Genet Med 2015;12:118-122
Published online December 31, 2015;  https://doi.org/10.5734/JGM.2015.12.2.118
© 2015 Korean Society of Medical Genetics.

Ji Hye Kim1, Gun Ho Lee2, Dong Hyun Cha1,3, Eun-Hae Cho4, and Yong Wook Jung1,*

1Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea,
2Department of Obstetrics and Gynecology, CHA Gumi Medical Center, CHA University, Gumi, Korea,
3Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA Universtiy, Seoul, Korea,
4Green Cross Genome, Yongin, Korea
Yong Wook Jung, MD, PhD Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, 569 Nonhyeon-ro, Gangnam-gu, Seoul 06135, Korea. Tel: +82-2-3468-3000, Fax: +82-2-3468-2616, E-mail: dumbung@chamc.co.kr
Received November 6, 2015; Revised December 9, 2015; Accepted December 10, 2015.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

Keywords : High-throughput nucleotide sequencing, Prenatal diagnosis, Turner syndrome, Sex chromosome aberrations, Mosaicism


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