Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

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.