ArticleFrontiers in genetics2025
Prenatal diagnosis and molecular characterization of
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Caroli disease (CD) and Caroli syndrome (CS) are rare inherited disorders characterized by dilatation of intrahepatic bile ducts, caused by Methods: Prenatal ultrasound and magnetic resonance imaging (MRI) findings were collected for both fetuses. Whole exome sequencing was performed in family 1 and fetus 2, using fetal umbilical cord and parental peripheral blood. The candidate variants were validated using Sanger sequencing. The effect of the splice site variant was evaluated by Results: Both fetuses presented with multiple dilated intrahepatic bile ducts and features consistent with autosomal recessive polycystic kidney disease (ARPKD) on ultrasound and MRI at 33 weeks (Fetus 1) and 39 weeks (Fetus 2) gestation; Fetus 2 also exhibited oligohydramnios. Trio WES analysis revealed two compound heterozygous variants of Conclusion: We reported the first prenatally diagnosed CD/CS cases with genetic analysis in the Chinese population, and experimentally validated the pathogenicity of the recurrent splice site variant c.3364 + 3A>T by a minigene assay. Our findings broaden the
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