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Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies

Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal abnormalities (RCAs). Methods: Gravidas with positive NIPT results for RCAs who subsequently underwent a...

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Autores principales: Hu, Ting, Wang, Jiamin, Zhu, Qian, Zhang, Zhu, Hu, Rui, Xiao, Like, Yang, Yunyuan, Liao, Na, Liu, Sha, Wang, He, Niu, Xiaoyu, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549601/
https://www.ncbi.nlm.nih.gov/pubmed/36226167
http://dx.doi.org/10.3389/fgene.2022.955694
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author Hu, Ting
Wang, Jiamin
Zhu, Qian
Zhang, Zhu
Hu, Rui
Xiao, Like
Yang, Yunyuan
Liao, Na
Liu, Sha
Wang, He
Niu, Xiaoyu
Liu, Shanling
author_facet Hu, Ting
Wang, Jiamin
Zhu, Qian
Zhang, Zhu
Hu, Rui
Xiao, Like
Yang, Yunyuan
Liao, Na
Liu, Sha
Wang, He
Niu, Xiaoyu
Liu, Shanling
author_sort Hu, Ting
collection PubMed
description Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal abnormalities (RCAs). Methods: Gravidas with positive NIPT results for RCAs who subsequently underwent amniocentesis for a single nucleotide polymorphism array (SNP array) were recruited. The degrees of concordance between the NIPT and SNP array were classified into full concordance, partial concordance, and discordance. The positive predictive value (PPV) was used to evaluate the performance of NIPT. Results: The screen-positivity rate of NIPT for RCAs was 0.5% (842/158,824). Of the 528 gravidas who underwent amniocentesis, 29.2% (154/528) were confirmed to have positive prenatal SNP array results. PPVs for rare autosomal trisomies (RATs) and segmental imbalances were 6.1% (7/115) and 21.1% (87/413), respectively. Regions of homozygosity/uniparental disomy (ROH/UPD) were identified in 9.5% (50/528) of gravidas. The PPV for clinically significant findings was 8.0% (42/528), including 7 cases with mosaic RATs, 30 with pathogenic/likely pathogenic copy number variants, and 5 with imprinting disorders. Conclusion: NIPT for common fetal aneuploidies yielded low PPVs for RATs, moderate PPVs for segmental imbalances, and incidental findings for ROH/UPD. Due to the low PPV for clinically significant findings, NIPT for common fetal aneuploidies need to be noticed for RCAs.
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spelling pubmed-95496012022-10-11 Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies Hu, Ting Wang, Jiamin Zhu, Qian Zhang, Zhu Hu, Rui Xiao, Like Yang, Yunyuan Liao, Na Liu, Sha Wang, He Niu, Xiaoyu Liu, Shanling Front Genet Genetics Objectives: The study aimed to investigate the clinical use of noninvasive prenatal testing (NIPT) for common fetal aneuploidies as a prenatal screening tool for the detection of rare chromosomal abnormalities (RCAs). Methods: Gravidas with positive NIPT results for RCAs who subsequently underwent amniocentesis for a single nucleotide polymorphism array (SNP array) were recruited. The degrees of concordance between the NIPT and SNP array were classified into full concordance, partial concordance, and discordance. The positive predictive value (PPV) was used to evaluate the performance of NIPT. Results: The screen-positivity rate of NIPT for RCAs was 0.5% (842/158,824). Of the 528 gravidas who underwent amniocentesis, 29.2% (154/528) were confirmed to have positive prenatal SNP array results. PPVs for rare autosomal trisomies (RATs) and segmental imbalances were 6.1% (7/115) and 21.1% (87/413), respectively. Regions of homozygosity/uniparental disomy (ROH/UPD) were identified in 9.5% (50/528) of gravidas. The PPV for clinically significant findings was 8.0% (42/528), including 7 cases with mosaic RATs, 30 with pathogenic/likely pathogenic copy number variants, and 5 with imprinting disorders. Conclusion: NIPT for common fetal aneuploidies yielded low PPVs for RATs, moderate PPVs for segmental imbalances, and incidental findings for ROH/UPD. Due to the low PPV for clinically significant findings, NIPT for common fetal aneuploidies need to be noticed for RCAs. Frontiers Media S.A. 2022-09-26 /pmc/articles/PMC9549601/ /pubmed/36226167 http://dx.doi.org/10.3389/fgene.2022.955694 Text en Copyright © 2022 Hu, Wang, Zhu, Zhang, Hu, Xiao, Yang, Liao, Liu, Wang, Niu 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
Hu, Ting
Wang, Jiamin
Zhu, Qian
Zhang, Zhu
Hu, Rui
Xiao, Like
Yang, Yunyuan
Liao, Na
Liu, Sha
Wang, He
Niu, Xiaoyu
Liu, Shanling
Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title_full Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title_fullStr Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title_full_unstemmed Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title_short Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
title_sort clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9549601/
https://www.ncbi.nlm.nih.gov/pubmed/36226167
http://dx.doi.org/10.3389/fgene.2022.955694
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