Evidence map›Paper›PMID 41580830›Full record

ArticleMolecular cytogenetics2026

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies.

Feng Suo, Jingjing Wang, Mingming Liao, Yi Wang, Yan Zhang, Xingzi Lu, Lingshan Gou, Man Zhang, Qin Wu, Xin Yin and 5 more

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Article in Molecular cytogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Feng Suo *Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Jingjing Wang *Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Mingming Liao *Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Yi WangXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Yan ZhangXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Xingzi LuXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Lingshan GouXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Man ZhangOffice of Continuing Education Jiangsu Provincial Xuzhou Pharmaceutical Vocational College, Xuzhou, China.
Qin WuXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Xin YinXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Xiaochan LiXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Mingxing SunXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Liuyuan WangXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Maosheng GuXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
Jinming ZhuXuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China. Yanchengstudent@163.com.

Funding

Xuzhou Key Medical Talents Training Project of Xuzhou XWRCHT20220060Xuzhou Municipal Science and Technology Innovation Special Fund KC23149Xuzhou "Pengcheng Talent" Youth Medical Reserve Talent Project XWRCHT20220014
6 · The paper itself

Abstract

backgroundExpanded non-invasive prenatal testing (E-NIPT) extends traditional screening for trisomies 21, 18, and 13 to sex-chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), and 92 pathogenic subchromosomal copy-number-variations (CNV) regions. However, the clinical performance of E-NIPT in large Chinese cohorts has not been fully characterized. This study aimed to assess the diagnostic performance of E-NIPT in a real-world cohort of nearly ten thousand pregnancies.

methodsIn this retrospective cohort study, we reviewed 9,708 consecutive pregnancies screened with E-NIPT at Xuzhou Maternity and Child Health Care Hospital between March 2021 and August 2024. All 192 screen-positive pregnancies were counseled for invasive diagnostic confirmation; 158 underwent chromosomal microarray analysis. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for each anomaly category were calculated.

resultsAmong 9,708 pregnancies, 192 (1.98%) were screen-positive; overall PPV among confirmed cases was 32.3%. Category-level results were: T21, 28 screen-positive with 26 confirmations and 23 true positives (sensitivity 100%, specificity 99.97%, PPV 88.5%, NPV 100%); T18, 11/10/3 (100%, 99.93%, 30.0%, 100%); T13, 15/13/2 (100%, 99.89%, 15.4%, 100%); SCAs, 37/26/15 (100%, 99.89%, 57.7%, 100%); RAAs, 43/5/1 (100%, 99.96%, 20.0%, 100%); CNVs, 58/48/7 with one false negative (sensitivity 87.5%, specificity 99.58%, PPV 14.6%, NPV 99.99%).

conclusionsE-NIPT showed excellent apparent sensitivity and high specificity for common trisomies and SCAs, with modest PPV for CNVs and low PPV for RAAs. Positive findings should undergo invasive diagnostic confirmation and genetic counseling to guide management.

Indexed as

Cell-free fetal DNAChromosome aneuploidiesCopy number variationsExpanded non-invasive prenatal testingPrenatal screening

Identifiers

PMID41580830
PMCPMC12910876

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