Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

ABSTRACT: Prenatal genetic testing plays a crucial role in prenatal diagnosis and is traditionally performed when abnormalities are detected on fetal ultrasound. With the widespread availability of next-generation sequencing (NGS), genetic screening is increasingly being applied to fetuses with normal ultrasound findings. This study aimed to evaluate the diagnostic yield and outcomes of NGS panel testing in a large cohort of pregnant women with sonographically normal fetuses. A retrospective analysis was conducted on 1,820 sonographically normal fetuses that underwent fetal NGS-targeted panel testing based on parental requests between June 2021 and June 2023. Among the 1,820 cases analyzed, no pathogenic mutations were identified in 833 (45.8%), 893 (49.1%) had an abnormal carrier status, and 94 (5.

SUBMITTER: Chen HY 

PROVIDER: S-EPMC12671786 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature