Prenatal diagnostic outcomes and positive predictive values in 1,326 pregnancies with high-risk non-invasive prenatal testing results
- 1Department of Reproductive Genetics, Hebei General Hospital, Shijiazhuang, China
- 2Hebei Clinical Research Center for Birth Defects, Shijiazhuang, China
- 3Department of Pharmacy, Hebei General Hospital, Shijiazhuang, China
Abstract
Objective: To investigate the prenatal diagnostic outcomes of pregnant women with high-risk non-invasive prenatal testing (NIPT) results and to explore factors influencing the positive predictive value (PPV) of NIPT.
Methods: Clinical data from 1,326 pregnant women with high-risk NIPT results who underwent invasive prenatal diagnosis at Hebei General Hospital between January 2014 and December 2023 were retrospectively analyzed. Chromosomal karyotyping, fluorescence in situ hybridization (FISH), and/or copy number variation sequencing (CNV-seq) were used as confirmatory diagnostic methods. PPVs were compared across different types of chromosomal abnormalities, maternal age groups, Z-score categories, ultrasound findings, and before and after implementation of the free NIPT screening policy.
Results: Among the 1,326 pregnancies with high-risk NIPT results, 648 were confirmed as true positives, yielding an overall PPV of 48.87%. The PPVs for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), and sex chromosome abnormalities (SCAs) were 78.61%, 56.36%, 10.53%, and 47.11%, respectively. The PPVs for common autosomal trisomies were higher in the advanced maternal age group than in the non-advanced maternal age group. After implementation of the free screening program, the PPVs for T21, T18, and T13 showed a slight numerical increase, the difference between groups was not statistically significant. PPVs increased with higher Z-scores and were further elevated when multiple ultrasound soft markers or structural anomalies were present. Among SCAs, the PPV for sex chromosome gains was significantly higher than that for sex chromosome losses.
Conclusion: NIPT demonstrated high screening performance for T21 and T18, whereas T13 and SCAs were associated with relatively high false-positive risks. Clinical interpretation of high-risk NIPT results should integrate maternal age, Z-score, ultrasound phenotype, and confirmatory prenatal diagnostic findings to facilitate stratified genetic counseling and optimize pregnancy management.
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BibTeX
@article{du2026prenatal,
title = {{Prenatal diagnostic outcomes and positive predictive values in 1,326 pregnancies with high-risk non-invasive prenatal testing results}},
author = {Runxuan Du and Bingyi Zhao and Xuedong Shi and Yingjie Gao and Yali Li and Bo Qiu},
journal = {Frontiers in Genetics},
year = {2026},
month = oct,
doi = {10.3389/fgene.2026.1899719},
url = {https://doi.org/10.3389/fgene.2026.1899719},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Prenatal diagnostic outcomes and positive predictive values in 1,326 pregnancies with high-risk non-invasive prenatal testing results
AU - Runxuan Du
AU - Bingyi Zhao
AU - Xuedong Shi
AU - Yingjie Gao
AU - Yali Li
AU - Bo Qiu
PY - 2026
DA - 2026/10/27
JO - Frontiers in Genetics
DO - 10.3389/fgene.2026.1899719
UR - https://doi.org/10.3389/fgene.2026.1899719
AB - Objective: To investigate the prenatal diagnostic outcomes of pregnant women with high-risk non-invasive prenatal testing (NIPT) results and to explore factors influencing the positive predictive value (PPV) of NIPT. Methods: Clinical data from 1,326 pregnant women with high-risk NIPT results who underwent invasive prenatal diagnosis at Hebei General Hospital between January 2014 and December 2023 were retrospectively analyzed. Chromosomal karyotyping, fluorescence in situ hybridization (FISH), and/or copy number variation sequencing (CNV-seq) were used as confirmatory diagnostic methods. PPVs were compared across different types of chromosomal abnormalities, maternal age groups, Z-score categories, ultrasound findings, and before and after implementation of the free NIPT screening policy. Results: Among the 1,326 pregnancies with high-risk NIPT results, 648 were confirmed as true positives, yielding an overall PPV of 48.87%. The PPVs for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), and sex chromosome abnormalities (SCAs) were 78.61%, 56.36%, 10.53%, and 47.11%, respectively. The PPVs for common autosomal trisomies were higher in the advanced maternal age group than in the non-advanced maternal age group. After implementation of the free screening program, the PPVs for T21, T18, and T13 showed a slight numerical increase, the difference between groups was not statistically significant. PPVs increased with higher Z-scores and were further elevated when multiple ultrasound soft markers or structural anomalies were present. Among SCAs, the PPV for sex chromosome gains was significantly higher than that for sex chromosome losses. Conclusion: NIPT demonstrated high screening performance for T21 and T18, whereas T13 and SCAs were associated with relatively high false-positive risks. Clinical interpretation of high-risk NIPT results should integrate maternal age, Z-score, ultrasound phenotype, and confirmatory prenatal diagnostic findings to facilitate stratified genetic counseling and optimize pregnancy management.
SN - 1664-8021
ER -