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Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women with a singleton pregnancy were recruited for N...

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Autores principales: Zou, Yongyi, Feng, Chuanxin, Qin, Jiawei, Wang, Xinrong, Huang, Tingting, Yang, Yan, Xie, Kang, Yuan, Huizhen, Huang, Shuhui, Yang, Bicheng, Lu, Wan, Liu, Yanqiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880269/
https://www.ncbi.nlm.nih.gov/pubmed/36712884
http://dx.doi.org/10.3389/fgene.2022.1073851
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author Zou, Yongyi
Feng, Chuanxin
Qin, Jiawei
Wang, Xinrong
Huang, Tingting
Yang, Yan
Xie, Kang
Yuan, Huizhen
Huang, Shuhui
Yang, Bicheng
Lu, Wan
Liu, Yanqiu
author_facet Zou, Yongyi
Feng, Chuanxin
Qin, Jiawei
Wang, Xinrong
Huang, Tingting
Yang, Yan
Xie, Kang
Yuan, Huizhen
Huang, Shuhui
Yang, Bicheng
Lu, Wan
Liu, Yanqiu
author_sort Zou, Yongyi
collection PubMed
description To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women with a singleton pregnancy were recruited for NIPT-Plus. Screening positive results were verified by karyotype analysis and chromosomal microarray analysis after amniocentesis. A total of 264 pregnancies (1.14%) were positive results as predicted by NIPT-Plus, including 233 aneuploidies and 31 copy number variations. Following genetic counseling, 233 (88.26%) pregnant women underwent invasive prenatal diagnosis and 136 were verified as true positives, comprising 72 common trisomies (T21, T18, T13), 47 sex chromosomal abnormalities two rare autosomal aneuploidies (RATs) and 15 copy number variations The positive predictive value for common trisomies, SCAs, RATs and CNVs were 68.57%, 68.12%, 6.67% and 51.72%, respectively. Pregnant women with screen-positive results for common trisomies have higher rates of invasive prenatal diagnosis and pregnancy termination than those with positive results for SCAs, RATs, and CNVs. NIPT-Plus showed a good performance in detecting common trisomies, SCAs and also contributed to detecting pathogenic CNVs, but higher accuracy was required in the detection of RATs. In summary, this study provides a reference for the clinical application of NIPT-Plus for screening fetal chromosomal abnormalities in this region. Therefore, we suggest that NIPT-Plus could be widely used in clinical screening for fetal chromosomal abnormalities in combination with prenatal diagnosis and genetic counseling.
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spelling pubmed-98802692023-01-28 Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China Zou, Yongyi Feng, Chuanxin Qin, Jiawei Wang, Xinrong Huang, Tingting Yang, Yan Xie, Kang Yuan, Huizhen Huang, Shuhui Yang, Bicheng Lu, Wan Liu, Yanqiu Front Genet Genetics To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women with a singleton pregnancy were recruited for NIPT-Plus. Screening positive results were verified by karyotype analysis and chromosomal microarray analysis after amniocentesis. A total of 264 pregnancies (1.14%) were positive results as predicted by NIPT-Plus, including 233 aneuploidies and 31 copy number variations. Following genetic counseling, 233 (88.26%) pregnant women underwent invasive prenatal diagnosis and 136 were verified as true positives, comprising 72 common trisomies (T21, T18, T13), 47 sex chromosomal abnormalities two rare autosomal aneuploidies (RATs) and 15 copy number variations The positive predictive value for common trisomies, SCAs, RATs and CNVs were 68.57%, 68.12%, 6.67% and 51.72%, respectively. Pregnant women with screen-positive results for common trisomies have higher rates of invasive prenatal diagnosis and pregnancy termination than those with positive results for SCAs, RATs, and CNVs. NIPT-Plus showed a good performance in detecting common trisomies, SCAs and also contributed to detecting pathogenic CNVs, but higher accuracy was required in the detection of RATs. In summary, this study provides a reference for the clinical application of NIPT-Plus for screening fetal chromosomal abnormalities in this region. Therefore, we suggest that NIPT-Plus could be widely used in clinical screening for fetal chromosomal abnormalities in combination with prenatal diagnosis and genetic counseling. Frontiers Media S.A. 2023-01-13 /pmc/articles/PMC9880269/ /pubmed/36712884 http://dx.doi.org/10.3389/fgene.2022.1073851 Text en Copyright © 2023 Zou, Feng, Qin, Wang, Huang, Yang, Xie, Yuan, Huang, Yang, Lu and Liu. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Zou, Yongyi
Feng, Chuanxin
Qin, Jiawei
Wang, Xinrong
Huang, Tingting
Yang, Yan
Xie, Kang
Yuan, Huizhen
Huang, Shuhui
Yang, Bicheng
Lu, Wan
Liu, Yanqiu
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title_full Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title_fullStr Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title_full_unstemmed Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title_short Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China
title_sort performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: a prospective study from a single center in jiangxi province, china
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880269/
https://www.ncbi.nlm.nih.gov/pubmed/36712884
http://dx.doi.org/10.3389/fgene.2022.1073851
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