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

ABSTRACT:

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). Two hundred and eight cases were followed up for postnatal outcomes. Then, we reviewed the literature of FGB anomalies cases with confirmed chromosomal results.

Results

The study included 227 foetuses, comprising 60 cases with isolated GB size anomalie

SUBMITTER: Zeng Y 

PROVIDER: S-EPMC11648139 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature