The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications
BackgroundOur aim was to evaluate the clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications.MethodsIn eight counties and districts of Yancheng, we studied 13,149 pregnant women with different indications who were offered NIPT for fetal screening,...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00624/full |
| _version_ | 1819116037944115200 |
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| author | Jianli Zheng Haiyan Lu Min Li Yongjuan Guan Fangfang Yang Mengjun Xu Jingjing Dong Qinge Zhang Ning An Yun Zhou |
| author_facet | Jianli Zheng Haiyan Lu Min Li Yongjuan Guan Fangfang Yang Mengjun Xu Jingjing Dong Qinge Zhang Ning An Yun Zhou |
| author_sort | Jianli Zheng |
| collection | DOAJ |
| description | BackgroundOur aim was to evaluate the clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications.MethodsIn eight counties and districts of Yancheng, we studied 13,149 pregnant women with different indications who were offered NIPT for fetal screening, including for sex chromosomal aneuploidies (SCAs), rare autosomal trisomies (RATs), and subchromosomal copy number variations (CNVs). The purpose was to compare the detection of positive predictive values (PPVs) of different indications with the use of NIPT. The results were validated by karyotyping, chromosomal microarray analysis (CMA), or follow-up of pregnancy outcomes.Results13,149 maternal plasma samples were sequenced, among which 28 samples (0.2%) failed the sequencing quality control. The remaining 13,121 samples were analyzed, and birth follow-up missed 2,192 samples (16.7%). The PPVs of NIPT results for trisomy 21 (T21) and trisomy 18 (T18) and SCAs were 96.67, 63.64, and 31.34%, respectively. Among the advanced maternal age (AMA), serum screening high risk (SSHR), serum screening intermediate risk (SSIR), and voluntary screening (VS) groups, the PPVs for the common trisomies were 81.25, 85.71, 100, and 70%, respectively; the PPVs for total chromosomal abnormalities were 55.82, 65.22, 23.08, and 36.59%, respectively.ConclusionNIPT for T21 and T18 and SCAs screening were ideal, and the PPVs for trisomy 13 (T13), RATs, and CNVs were low. For the AMA and VS groups, NIPT could be used as a first-line screening program; for SSHR and SSIR groups, NIPT could be used as a second-line supplementary screening program. |
| first_indexed | 2024-12-22T05:10:43Z |
| format | Article |
| id | doaj.art-6b90534f928c4e03954e6a5f0bc62224 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-22T05:10:43Z |
| publishDate | 2020-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-6b90534f928c4e03954e6a5f0bc622242022-12-21T18:37:59ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-06-011110.3389/fgene.2020.00624533790The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic IndicationsJianli ZhengHaiyan LuMin LiYongjuan GuanFangfang YangMengjun XuJingjing DongQinge ZhangNing AnYun ZhouBackgroundOur aim was to evaluate the clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications.MethodsIn eight counties and districts of Yancheng, we studied 13,149 pregnant women with different indications who were offered NIPT for fetal screening, including for sex chromosomal aneuploidies (SCAs), rare autosomal trisomies (RATs), and subchromosomal copy number variations (CNVs). The purpose was to compare the detection of positive predictive values (PPVs) of different indications with the use of NIPT. The results were validated by karyotyping, chromosomal microarray analysis (CMA), or follow-up of pregnancy outcomes.Results13,149 maternal plasma samples were sequenced, among which 28 samples (0.2%) failed the sequencing quality control. The remaining 13,121 samples were analyzed, and birth follow-up missed 2,192 samples (16.7%). The PPVs of NIPT results for trisomy 21 (T21) and trisomy 18 (T18) and SCAs were 96.67, 63.64, and 31.34%, respectively. Among the advanced maternal age (AMA), serum screening high risk (SSHR), serum screening intermediate risk (SSIR), and voluntary screening (VS) groups, the PPVs for the common trisomies were 81.25, 85.71, 100, and 70%, respectively; the PPVs for total chromosomal abnormalities were 55.82, 65.22, 23.08, and 36.59%, respectively.ConclusionNIPT for T21 and T18 and SCAs screening were ideal, and the PPVs for trisomy 13 (T13), RATs, and CNVs were low. For the AMA and VS groups, NIPT could be used as a first-line screening program; for SSHR and SSIR groups, NIPT could be used as a second-line supplementary screening program.https://www.frontiersin.org/article/10.3389/fgene.2020.00624/fullnon-invasive prenatal testingtrisomy 211813sex chromosome aneuploidiesrare autosomal trisomies |
| spellingShingle | Jianli Zheng Haiyan Lu Min Li Yongjuan Guan Fangfang Yang Mengjun Xu Jingjing Dong Qinge Zhang Ning An Yun Zhou The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications Frontiers in Genetics non-invasive prenatal testing trisomy 21 18 13 sex chromosome aneuploidies rare autosomal trisomies |
| title | The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications |
| title_full | The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications |
| title_fullStr | The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications |
| title_full_unstemmed | The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications |
| title_short | The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications |
| title_sort | clinical utility of non invasive prenatal testing for pregnant women with different diagnostic indications |
| topic | non-invasive prenatal testing trisomy 21 18 13 sex chromosome aneuploidies rare autosomal trisomies |
| url | https://www.frontiersin.org/article/10.3389/fgene.2020.00624/full |
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