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Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully...

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Autores principales: Lai, Yunli, Zhu, Xiaofan, He, Sheng, Dong, Zirui, Tang, Yanqing, Xu, Fuben, Chen, Yun, Meng, Lintao, Tao, Yuli, Yi, Shang, Su, Jiasun, Huang, Hongqian, Luo, Jingsi, Leung, Tak Yeung, Wei, Hongwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067030/
https://www.ncbi.nlm.nih.gov/pubmed/33806256
http://dx.doi.org/10.3390/genes12040478
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author Lai, Yunli
Zhu, Xiaofan
He, Sheng
Dong, Zirui
Tang, Yanqing
Xu, Fuben
Chen, Yun
Meng, Lintao
Tao, Yuli
Yi, Shang
Su, Jiasun
Huang, Hongqian
Luo, Jingsi
Leung, Tak Yeung
Wei, Hongwei
author_facet Lai, Yunli
Zhu, Xiaofan
He, Sheng
Dong, Zirui
Tang, Yanqing
Xu, Fuben
Chen, Yun
Meng, Lintao
Tao, Yuli
Yi, Shang
Su, Jiasun
Huang, Hongqian
Luo, Jingsi
Leung, Tak Yeung
Wei, Hongwei
author_sort Lai, Yunli
collection PubMed
description To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.
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spelling pubmed-80670302021-04-25 Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China Lai, Yunli Zhu, Xiaofan He, Sheng Dong, Zirui Tang, Yanqing Xu, Fuben Chen, Yun Meng, Lintao Tao, Yuli Yi, Shang Su, Jiasun Huang, Hongqian Luo, Jingsi Leung, Tak Yeung Wei, Hongwei Genes (Basel) Article To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information. MDPI 2021-03-25 /pmc/articles/PMC8067030/ /pubmed/33806256 http://dx.doi.org/10.3390/genes12040478 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Lai, Yunli
Zhu, Xiaofan
He, Sheng
Dong, Zirui
Tang, Yanqing
Xu, Fuben
Chen, Yun
Meng, Lintao
Tao, Yuli
Yi, Shang
Su, Jiasun
Huang, Hongqian
Luo, Jingsi
Leung, Tak Yeung
Wei, Hongwei
Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title_full Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title_fullStr Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title_full_unstemmed Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title_short Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
title_sort performance of cell-free dna screening for fetal common aneuploidies and sex chromosomal abnormalities: a prospective study from a less developed autonomous region in mainland china
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067030/
https://www.ncbi.nlm.nih.gov/pubmed/33806256
http://dx.doi.org/10.3390/genes12040478
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