Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases

Abstract Background Non-invasive prenatal testing is widely used for screening common fetal aneuploidy disorders such as trisomy 21, trisomy 18, and trisomy 13. However, its ability to detect rare autosomal trisomies has introduced a new layer of complexity and clinical uncertainty. Methods A retros...

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Bibliographic Details
Main Authors: Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Medical Genomics
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Online Access:https://doi.org/10.1186/s12920-025-02099-3
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