Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.

ABSTRACT:

Introduction

Ultrasound scanning anomalies in fetuses are a cause for concern and often necessitate further diagnostic procedures. This retrospective study evaluated the utility of trio whole exome sequencing (trio-WES) in the diagnosis of fetuses with ultrasound anomalies.

Methods

We included fetuses diagnosed with fetal ultrasound anomalies referred to the First Affiliated Hospital of Chongqing Medical University between November 2018 and July 2023. Fetal anomalies were classified into structural anomalies, dynamic anomalies, and soft markers. Karyotype analysis, chromosomal microarray analysis (CMA) or copy number variation sequencing (CNV-seq) and trio-WES were performed for the eligible cases. Perinatal outcomes were recorded and evaluated at postnatal follow-up.

Res

SUBMITTER: Zeng Z 

PROVIDER: S-EPMC11972492 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature