ArticlePloS one2025
Clinical experience of genome-wide non-invasive prenatal testing as a first-tier screening test in a cohort of 59,771 pregnancies.
Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- The Implementation and Clinical Validation of a Whole-Genome Sequencing Non-Invasive Prenatal Test in a High-Complexity Clinical Laboratory: A Retrospective Analysis of 11,235 Pregnancies.Diagnostics (Basel, Switzerland) · 2026Article
- 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
- Global and Chinese co-occurrence patterns association with socio-demographic index for congenital heart disease and Down syndrome, 1990-2021.Translational pediatrics · 2026Article
- Copy Number Variant Detection by NIPT: Biological Constraints and the Limits of Prenatal Genomic Inference.Genes · 2026Review
- Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2026Article
- Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism.Molecular cytogenetics · 2026Article
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Authors and funding
7 authors.
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Abstract
objectiveGenome-wide non-invasive prenatal testing (GW-NIPT) for prenatal screening has been widely implemented. However, the related clinical data is still insufficient. Here, we evaluated the clinical performance of GW-NIPT as a first-tier screening test for detecting fetal aneuploidy and copy number variation (CNV).
methodsThe study included 59,877 pregnant women who underwent GW-NIPT at Shenzhen Baoan Women's and Children's Hospital, China, from November 2017 to May 2021. NIPT was performed on the BGISEQ-500 platform. Fetal karyotype analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization were used for invasive diagnostic procedures, and postnatal outcomes were collected.
resultsAmong 59,877 pregnant women who underwent GW-NIPT, 59,771 were successfully tested. Of these, 499 (0.83%) were identified with 504 high-risk fetal chromosomal abnormalities, including 5 cases each carrying two distinct abnormalities. Follow-up analysis demonstrated that GW-NIPT sensitivity exceeded 97% for fetal aneuploidies and was 63.6% for CNV (≥5 Mb). The positive predictive values for T21, T18, T13, sex chromosome aneuploidy, rare autosomal aneuploidy, and CNV (≥5 Mb) were calculated as 83.1%, 25.8%, 10.3%, 51.9%, 2.0%, and 33.9%, respectively. For confirmed fetal mosaicism, the detection rate of NIPT was 70.6%, which was consistent with that of CMA (70.6%).
conclusionsGW-NIPT has high sensitivity in screening fetal aneuploidy and moderate clinical utility in detecting CNV and fetal mosaicism, demonstrating that GW-NIPT holds significant application value in current and future prenatal screening procedures.
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