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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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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. |
format | Online Article Text |
id | pubmed-9549601 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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