Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.

ABSTRACT:

Background

Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD.

Methods

The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used

SUBMITTER: Regev O 

PROVIDER: S-EPMC11443733 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature