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Background <p>Expanded 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.</p> Methods <p>In 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.</p> Results <p>Among 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%).</p> Conclusions <p>E-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.</p>

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

  • 期刊论文

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  • 发表日期：

    2026年1月24日

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  • Feng Suo,
  • Jingjing Wang,
  • Mingming Liao,
  • Yi Wang,
  • Yan Zhang,
  • Xingzi Lu,
  • Lingshan Gou,
  • Man Zhang,
  • Qin Wu,
  • Xin Yin,
  • Xiaochan Li,
  • Mingxing Sun,
  • Liuyuan Wang,
  • Maosheng Gu,
  • Jinming Zhu

摘要

Background

Expanded 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.

Methods

In 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.

Results

Among 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%).

Conclusions

E-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.