Fang-Mei Liu

Prenatal molecularly supported diagnosis of a fetus with urinary malformation caused by novel compound heterozygous variants in the FAM149B1 gene.

The first prenatal case from a non-consanguineous Chinese family presenting with isolated right pelvicalyceal and ureteral dilation at 24 weeks of gestation is reported, highlighting the utility of prenatal exome sequencing in atypical cases and contributing to the understanding of the expanding genetic and phenotypic landscape of ciliopathies.