Evaluation of prenatal genetic aberrations in fetuses with gallbladder abnormalities: A retrospective cohort study

Background

With the widespread application of chromosomal microarray analysis (CMA) in prenatal diagnosis, fetal gallbladder abnormalities have been found to be associated not only with chromosomal aneuploidies but also with certain syndromes caused by submicroscopic chromosomal structural variants. This study aimed to investigate the molecular etiology of fetal gallbladder abnormalities and to provide additional evidence for clinical screening and genetic counseling regarding these anomalies. Material and methods: This retrospective study included 258 fetuses diagnosed with gallbladder abnormalities through prenatal ultrasonographic screening. Among these, 167 cases underwent both karyotype analysis and CMA, 14 cases received CMA only, and 77 cases underwent karyotype analysis only. The fetuses were categorized into two groups based on the presence of additional structural anomalies: isolated gallbladder abnormalities (Group A), gallbladder abnormalities accompanied by soft markers (Group B) and gallbladder abnormalities accompanied by structural anomalies or other abnormalities (Group C). Within each of the three groups, cases were further subdivided into subgroups A1/B1/C1, A2/B2/C2, A3/B3/C3, and A4/B4/C4, corresponding to fetuses with nonvisualized gallbladder, gallbladder enlargement, small gallbladder, and other gallbladder abnormalities, respectively.