Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women
BackgroundRecent advancements in high-throughput sequencing have validated the accuracy, safety, and effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS).MethodsThis study aims to assess the effectiveness and economic implications of NIPT versus second-trimester serum screeni...
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Frontiers Media S.A.
2025-05-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fpubh.2025.1535381/full |
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| author | Jing Liu Shunyao Wang Shihao Zhou Di Ma Lanping Hu Hui Huang Siyuan Linpeng Jiawei Lin Liu Hong Qinmei Fu Huanhuan Peng Lijian Zhao Lijian Zhao Lijian Zhao Nan Wang Jun He |
| author_facet | Jing Liu Shunyao Wang Shihao Zhou Di Ma Lanping Hu Hui Huang Siyuan Linpeng Jiawei Lin Liu Hong Qinmei Fu Huanhuan Peng Lijian Zhao Lijian Zhao Lijian Zhao Nan Wang Jun He |
| author_sort | Jing Liu |
| collection | DOAJ |
| description | BackgroundRecent advancements in high-throughput sequencing have validated the accuracy, safety, and effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS).MethodsThis study aims to assess the effectiveness and economic implications of NIPT versus second-trimester serum screening (STSS) for DS and the different screening strategies through retrospectively analyzing data from 140,472 pregnant women who completed both NIPT and STSS (provided for free by local public welfare programs) between March 1, 2018 and December 31, 2020. Data were categorized into eight groups based on different screening strategies.ResultsThe sensitivity, specificity, and positive predictive value of NIPT for detecting trisomy 21 were significantly higher compared with those of STSS. The universal NIPT screening strategy demonstrated the best effectiveness, detecting 163 DS cases with the highest net benefit and a cost-effectiveness ratio of 1:9.53. The STSS and NIPT combined screening strategy detected 128 DS cases with the lowest cost-effectiveness at RMB 341,800. The incremental cost-effectiveness ratio of the universal NIPT screening strategy was RMB 1,186,200, significantly lower than the socioeconomic burden associated with a DS case.ConclusionNIPT demonstrated significantly superior testing performance compared to STSS. At a unit cost of RMB 600, the universal NIPT screening strategy is the most effective and holds substantial health economic value. |
| format | Article |
| id | doaj-art-1579da71d9f242cd8773c08d68feac95 |
| institution | OA Journals |
| issn | 2296-2565 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Public Health |
| spelling | doaj-art-1579da71d9f242cd8773c08d68feac952025-08-20T02:28:28ZengFrontiers Media S.A.Frontiers in Public Health2296-25652025-05-011310.3389/fpubh.2025.15353811535381Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 womenJing Liu0Shunyao Wang1Shihao Zhou2Di Ma3Lanping Hu4Hui Huang5Siyuan Linpeng6Jiawei Lin7Liu Hong8Qinmei Fu9Huanhuan Peng10Lijian Zhao11Lijian Zhao12Lijian Zhao13Nan Wang14Jun He15Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBGI Genomics, Shenzhen, ChinaHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBGI Genomics, Shenzhen, ChinaHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBGI Genomics, Shenzhen, ChinaHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBGI Genomics, Shenzhen, ChinaHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBGI Genomics, Shenzhen, ChinaMGI Tech, Shenzhen, ChinaBGI Genomics, Shenzhen, ChinaHebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, Shijiazhuang BGI Genomics Co, Ltd, Shijiazhuang, Hebei, ChinaMedical Technology College of Hebei Medical University, Shijiazhuang, ChinaSchool of Public Administration, Hunan University, Changsha, Hunan, ChinaHunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, ChinaBackgroundRecent advancements in high-throughput sequencing have validated the accuracy, safety, and effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS).MethodsThis study aims to assess the effectiveness and economic implications of NIPT versus second-trimester serum screening (STSS) for DS and the different screening strategies through retrospectively analyzing data from 140,472 pregnant women who completed both NIPT and STSS (provided for free by local public welfare programs) between March 1, 2018 and December 31, 2020. Data were categorized into eight groups based on different screening strategies.ResultsThe sensitivity, specificity, and positive predictive value of NIPT for detecting trisomy 21 were significantly higher compared with those of STSS. The universal NIPT screening strategy demonstrated the best effectiveness, detecting 163 DS cases with the highest net benefit and a cost-effectiveness ratio of 1:9.53. The STSS and NIPT combined screening strategy detected 128 DS cases with the lowest cost-effectiveness at RMB 341,800. The incremental cost-effectiveness ratio of the universal NIPT screening strategy was RMB 1,186,200, significantly lower than the socioeconomic burden associated with a DS case.ConclusionNIPT demonstrated significantly superior testing performance compared to STSS. At a unit cost of RMB 600, the universal NIPT screening strategy is the most effective and holds substantial health economic value.https://www.frontiersin.org/articles/10.3389/fpubh.2025.1535381/fullprenatal diagnosishealth economicshealth policynon-invasive prenatal testingDown syndrome |
| spellingShingle | Jing Liu Shunyao Wang Shihao Zhou Di Ma Lanping Hu Hui Huang Siyuan Linpeng Jiawei Lin Liu Hong Qinmei Fu Huanhuan Peng Lijian Zhao Lijian Zhao Lijian Zhao Nan Wang Jun He Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women Frontiers in Public Health prenatal diagnosis health economics health policy non-invasive prenatal testing Down syndrome |
| title | Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women |
| title_full | Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women |
| title_fullStr | Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women |
| title_full_unstemmed | Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women |
| title_short | Cost-effectiveness of different screening strategies for Down syndrome: a real-world analysis in 140,472 women |
| title_sort | cost effectiveness of different screening strategies for down syndrome a real world analysis in 140 472 women |
| topic | prenatal diagnosis health economics health policy non-invasive prenatal testing Down syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fpubh.2025.1535381/full |
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