Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

Résumé fourni par la source

Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype-phenotype correlations remain challenging. We report a couple with two consecutive terminated pregnancies following prenatal detection of hepatic anomalies suggestive of DPM. Genetic analyses revealed compound heterozygous variants in PKHD1 in both fetuses. One variant (c.931A>G) was classified as likely pathogenic, while the second (c.533T>A), initially reported as a variant of uncertain significance, was reclassified as likely pathogenic after recurrence of the phenotype. This case highlights the importance of integrating prenatal imaging, postmortem examination, and whole-gene sequencing to refine variant classification and improve genetic counseling. Furthermore, it expands the clinical spectrum of PKHD1-related disorders.

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