ArticleFrontiers in genetics2024
The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.
Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Toward Small CNV Detection in NIPT: A Preliminary Analytical Evaluation of Sequencing Depth and Workflow Configuration.Diagnostics (Basel, Switzerland) · 2026Article
- Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2026Observational
- Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing.Journal of community genetics · 2026Article
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.Seminars in immunopathology · 2025Review
- Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases.Frontiers in molecular biosciences · 2025Article
- The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations.Frontiers in medicine · 2025Article
- Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.PloS one · 2025Article
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Authors and funding
6 authors.
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Abstract
Background: Chromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13). However, the application of NIPT in microdeletion and microduplication detection is still controversial. Methods: This study retrospectively analyzed the data of 68,588 cases that underwent NIPT at Ganzhou Maternal and Child Health Hospital in China. These data were used to evaluate the performance of NIPT in fetal chromosome microdeletion/microduplication detection and to investigate the key factors affecting the NIPT performance. Results: A total of 281 cases (0.41%) had positive NIPT results with copy number variants (CNVs), of which 161 were validated by karyotyping and chromosome microarray analysis (CMA). Among the 161 cases, 92 were confirmed as true positives through karyotyping or CMA, including 61 microdeletion cases and 31 microduplication cases, resulting in a positive predictive value (PPV) of 57.14%. Improvements in library construction methods increased the fraction of cell-free fetal DNA (cffDNA) from 13.76% to 18.44%, leading to a significant improvement in the detection rate (0.47% vs. 0.15%) and PPV (59.86% vs. 28.57%) of NIPT for CNVs. Conclusion: This study proved the robust performance of NIPT for fetal chromosome microdeletion/microduplication detection. In addition, the cffDNA fraction is a key factor influencing NIPT, with increased cffDNA fraction improving the performance of NIPT.
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