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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

Scientific reports, 2019-05, Vol.9 (1), p.7767-7767, Article 7767 [Peer Reviewed Journal]

The Author(s) 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-44018-4 ;PMID: 31123326

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Title:
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
Author: Deng, Cechuan ; Zhu, Qian ; Liu, Sha ; Liu, Jianlong ; Bai, Ting ; Jing, Xiaosha ; Xia, Tianyu ; Liu, Yunyun ; Cheng, Jing ; Li, Zhunduo ; Wei, Xiang ; Xing, Lingling ; Luo, Yuan ; Liu, Hongqian
Subjects: Aneuploidy ; China ; Down Syndrome - diagnosis ; Down Syndrome - genetics ; Female ; Fetuses ; High-Throughput Nucleotide Sequencing - methods ; Humans ; Karyotyping - methods ; Noninvasive Prenatal Testing - methods ; Pregnancy ; Prenatal development ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Retrospective Studies ; Sex Chromosome Aberrations - classification ; Sex Chromosome Aberrations - embryology ; Sex Chromosomes - genetics ; Trisomy - diagnosis ; Trisomy - genetics
Is Part Of: Scientific reports, 2019-05, Vol.9 (1), p.7767-7767, Article 7767
Description: To evaluate the clinical performance of noninvasive prenatal screening (NIPS) for fetal sex chromosome aneuploidies (SCAs), pregnant women were recruited in this retrospective observational study. The NIPS test was undertaken using high-throughput gene sequencing. In total,50,301 pregnant women were analysed for demographic characteristics and medical history. Of them, 308 women (0.61%) had high risk for fetal SCAs, including 138 for 45,X, 111 for 47,XXY, 42 for 47,XXX, and 17 for 47,XYY. After the pre-test counselling, 182 participants chose to undergo invasive prenatal diagnosis, confirming 59 positive cases. The combined positive predictive value of NIPS was 32.42% (59/182), 18.39% (16/87), 44.4% (12/27), 39.29% (22/56), and 75% (9/12) for detecting SCAs, 45,X, 47,XXX, 47,XXY, and 47,XYY, respectively. NIPS can be a useful method to detect the fetal SCAs using high-throughput gene sequencing, though accuracy can still be improved, especially for 45,X. Although the value of NIPS compare favorably with those seen in traditional screening approaches for SCAs, it is important to highlight the limitations of NIPS while educating clinicians and patients.
Publisher: England: Nature Publishing Group
Language: English
Identifier: ISSN: 2045-2322
EISSN: 2045-2322
DOI: 10.1038/s41598-019-44018-4
PMID: 31123326
Source: MEDLINE
PubMed Central
ProQuest Central
DOAJ Directory of Open Access Journals

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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

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