Clinical utility and limitations of non‐invasive prenatal testing for chromosome 20 abnormalities: A retrospective study of 83 high‐risk pregnancies

NIPT demonstrates very limited accuracy for detecting chromosome 20 aneuploidies, while its performance in identifying CNVs is comparatively higher but remains modest. The favorable outcomes in most cases with normal diagnostic results underscore the importance of cautious reporting and interpretation of high-risk results for chromosome 20 abnormalities as well as comprehensive genetic counseling to guide pregnancy management.

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Publication Details

Journal
International Journal of Gynecology & Obstetrics
Published
2025-12-03
DOI
https://doi.org/10.1002/ijgo.70722
Citations
2
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
6.99
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article

Clinical utility and limitations of non‐invasive prenatal testing for chromosome 20 abnormalities: A retrospective study of 83 high‐risk pregnancies

Jieping Song, Meiqi Yi, Chengcheng Zhang, Hu Jian et al.
2 citations
International Journal of Gynecology & Obstetrics
Prenatal Screening and Diagnostics
6.99
article

Clinical utility and limitations of non‐invasive prenatal testing for chromosome 20 abnormalities: A retrospective study of 83 high‐risk pregnancies

Jieping Song, Meiqi Yi, Chengcheng Zhang, Hu Jian, Ling Zeng, Ting Wang
article en
2 citations

Abstract

NIPT demonstrates very limited accuracy for detecting chromosome 20 aneuploidies, while its performance in identifying CNVs is comparatively higher but remains modest. The favorable outcomes in most cases with normal diagnostic results underscore the importance of cautious reporting and interpretation of high-risk results for chromosome 20 abnormalities as well as comprehensive genetic counseling to guide pregnancy management.

International Journal of Gynecology & Obstetrics
Hubei Provincial Women and Children's Hospital (CN)
Openalex Percentile: Top 3%
Prenatal Screening and Diagnostics
6.99
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