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Article

The clinical utility of systematic reporting of secondary findings in prenatal diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2025

Yin Kaili, Qi Qingwei, Zhou Xiya, Hao Na, Wang Ru, Chang Jiazhen, Li Mengmeng, Yang Xueting, Wang Mingming, Lü Yan, Jiang Yulin

Abstract excerpt

PURPOSE: Secondary findings (SFs) identified through genomic sequencing are results unrelated to the primary indication but with potential clinical utility. Although genomic technologies are increasingly used in perinatal diagnosis, the clinical implications of SFs remain insufficiently explored. We evaluated the detection rates, phenotypic concordance, and clinical implications of SFs in a prenatal cohort...

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PMID: 41045074
DOI: 10.1016/j.gim.2025.101596

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