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Updated: Jan 26, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708
Feng Suo1,2, Jingjing Wang1, Mingming Liao1
1Xuzhou Maternity and Child Health Care Hospital Affiliated to Xuzhou Medical University, Xuzhou, China.
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.
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