ArticlePrenatal diagnosis2025
Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.
Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.Prenatal diagnosis · 2025Article
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Authors and funding
8 authors.
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No grant is acknowledged in the PubMed record.
Abstract
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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