Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

ABSTRACT:

Objective

This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples.

Methods

A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained. High-risk pregnancies were excluded due to major ultrasound anomalies, sonographic soft markers, abnormal maternal biochemical screening, or family history suggestive of monogenic diseases as well as cases with pathogenic and likely pathogenic (P/LP) chromosomal microarray results. Exome analysis focused on ∼2100 genes associated with Mendelian genetic disorders. Variant an

SUBMITTER: Levy M 

PROVIDER: S-EPMC11893517 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature