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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed 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) 2021 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-020-00521-2 ;PMID: 33407708

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Title:
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
Author: Lu, Xinran ; Wang, Chaohong ; Sun, Yuxiu ; Tang, Junxiang ; Tong, Keting ; Zhu, Jiansheng
Subjects: Advanced maternal age ; Age ; Amniocentesis ; Aneuploidy ; Births ; Chromosomes ; Deoxyribonucleic acid ; DNA ; Fetuses ; Genetic counseling ; Genetic research ; Genotype & phenotype ; High-throughput sequencing ; Infertility ; Males ; Medical screening ; Medical societies ; Medical tests ; Miscarriage ; Monosomy ; Noninvasive prenatal testing ; Positive predictive value ; Pregnancy ; Pregnant women ; Prenatal screening ; Risk factors ; Serology ; Sex chromosome aneuploidy ; Sex chromosomes ; Stillbirth ; Ultrasonic imaging ; Women
Is Part Of: Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1
Description: To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected. In total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age. NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.
Publisher: England: BioMed Central Ltd
Language: English
Identifier: ISSN: 1755-8166
EISSN: 1755-8166
DOI: 10.1186/s13039-020-00521-2
PMID: 33407708
Source: GFMER Free Medical Journals
PubMed Central
ROAD: Directory of Open Access Scholarly Resources
ProQuest Central
DOAJ Directory of Open Access Journals
Springer Nature OA Free Journals

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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

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