ArticleInternational journal of women's health2024
Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China.
Article in International journal of women's health, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 8 citations in OpenAlex.
- Complementary Diagnostic Roles of Non-Invasive Prenatal Testing, Chromosomal Microarray Analysis, and Karyotyping in 14,011 High-Risk Pregnancies: A Retrospective Cohort Study with Combined Analyses.Journal of clinical medicine · 2026Article
- Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age.Scientific reports · 2026Article
- Utility of Non-Invasive Prenatal Test (NIPT) as a Screening Tool for Fetal Aneuploidy in a Family Medicine Setting in Saudi Arabia.International journal of women's health · 2026Article
- Article
- Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).Scientific reports · 2025Article
- Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.PloS one · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: This study was to evaluate the performance of noninvasive prenatal testing (NIPT) in detecting fetal chromosome disorders in pregnant women. Methods: From October 1st, 2017, to December 31th, 2022, a total of 15,304 plasma cell free DNA-NIPT samples were collected for fetal chromosome disorders screening. The results of NIPT were validated by confirmatory invasive testing or clinical outcome follow-up. Further, NIPT performance between low-risk and high-risk groups, as well as singleton pregnancy and twin pregnancy groups was compared. Besides, analysis of 111 false-positive cases was performed. Results: Totally, NIPT was performed on 15,086 eligible venous blood samples, of which 179 (1.19%) showed positive NIPT results and 68 were further validated to be true positive samples via confirmatory invasive testing or follow-up of clinical outcomes. For common chromosome aneuploidies, sex chromosome abnormalities (SCA) and other chromosomal aneuploidies, the detection sensitivities of NIPT were all 100%, the specificities were 99.87%, 99.70%, and 99.68% and the positive predictive values (PPVs) were 65.45%, 31.82%, and 10.91%, respectively. No statistically significant variance in detection performance was observed among 2987 high-risk and 12,099 low-risk subjects, as well as singleton and twin pregnancy subjects. The concentration of cell-free fetal DNA of 111 false-positive cases ranged from 5.5% to 33.7%, which was higher than the minimum requirement of NIPT. Conclusion: With stringent protocol, NIPT shows high sensitivity and specificity for detecting fetal chromosome disorders in a large-scale clinical service, helping improving overall pregnancy management.
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