Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.

Objectives: The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.

Methods: Two hundred and twenty-seven foetuses with gallbladder (GB) size anomalies who underwent prenatal diagnosis between January 2015 and June 2024 were included in the study. All these patients underwent chromosomal microarray and/or karyotyping, and 37 cases also underwent whole exome sequencing (WES).

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

Background: Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood.