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Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses

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dc.contributor.authorFrank, M.S.B.
dc.contributor.authorBennett, M.K.
dc.contributor.authorHa, T.T.
dc.contributor.authorMoore, L.
dc.contributor.authorArts, P.
dc.contributor.authorByrne, A.B.
dc.contributor.authorBabic, M.
dc.contributor.authorArriola-Martinez, L.
dc.contributor.authorToubia, J.
dc.contributor.authorBrautigan, P.J.
dc.contributor.authorFeng, J.
dc.contributor.authorSchwarz, Q.
dc.contributor.authorThomas, P.Q.
dc.contributor.authorPiltz, S.G.
dc.contributor.authorWhite, M.A.
dc.contributor.authorMoghimi, A.
dc.contributor.authorStrachan, K.
dc.contributor.authorKwan, E.
dc.contributor.authorSpringer, A.
dc.contributor.authorLewit-Mendes, M.
dc.contributor.authoret al.
dc.date.issued2025
dc.description.abstractBackground Prenatal presentation of polycystic kidney disease (PKD), characterized by bilateral renal cysts and enlarged echogenic kidneys on ultrasound, often results in perinatal death. Prenatal manifestations of PKD are generally associated with autosomal recessive PKD, most commonly a result of pathogenic variants in PKHD1, but in rare cases can also be driven by bi-allelic inheritance of pathogenic variants in genes more commonly associated with autosomal dominant PKD such as PKD1. Diagnosing the underlying cause of prenatal PKD can be complicated by atypical histology, and/or a prenatal phenotype that does not align with family history. In this study, five cases of prenatal PKD with atypical or inconclusive features identified during post-mortem investigations underwent trio exome or genome sequencing, termed a genomic autopsy. Results Genomic autopsy was able to delineate the genetic basis of prenatal PKD in all five families. Conclusion Our findings demonstrate the diagnostic utility of a genomic autopsy in providing a genetic diagnosis for fetal PKD cases post-mortem, particularly in atypical presentations. A genetic diagnosis is highly beneficial for future family planning, including the use of reproductive technologies, as well as identifying presymptomatic parents who are likely to develop PKD in the future.
dc.description.statementofresponsibilityMahalia S. B. Frank, Melissa K. Bennett, Thuong T. Ha, Lynette Moore, Peer Arts, Alicia B. Byrne, Milena Babic, Luis Arriola-Martinez, John Toubia, Peter J. Brautigan, Jinghua Feng, Quenten Schwarz, Paul Q. Thomas, Sandra G. Piltz, Melissa A. White, Ali Moghimi, Kate Strachan, Edward Kwan, Amanda Springer, Miranda Lewit-Mendes, Jarrad Dearman, Tenielle Davis, Lucy Kevin, Hugh J. McCarthy, Jan Liebelt, Emma Krzesinski, Matthew Regan, Kunal Verma, George McGillivray, Kushani Jayasinghe, Matilda R. Jackson, Christopher P. Barnett, Hamish S. Scott
dc.identifier.citationHuman Genomics, 2025; 19(1, article no. 132):132-1-132-13
dc.identifier.doi10.1186/s40246-025-00844-4
dc.identifier.issn1473-9542
dc.identifier.issn1479-7364
dc.identifier.orcidFrank, M.S.B. [0000-0002-6668-4631]
dc.identifier.orcidArts, P. [0000-0002-6742-6239]
dc.identifier.orcidWhite, M.A. [0000-0002-8748-9210]
dc.identifier.orcidJackson, M.R. [0000-0001-7547-7653]
dc.identifier.orcidBarnett, C.P. [0000-0003-1717-3824]
dc.identifier.orcidScott, H.S. [0000-0002-5813-631X]
dc.identifier.urihttps://hdl.handle.net/11541.2/45451
dc.language.isoen
dc.publisherBMC
dc.relation.fundingMedical Research Futures Fund Early to Mid-Career Researchers Grant Opportunity APP2023357
dc.relation.fundingMaurice de Rohan International Scholarship
dc.relation.fundingAustralian Genomics Health Alliance NHMRC, Targeted Call for Research into Preparing Australia for the Genomics Revolution in Healthcare GNT1113531
dc.relation.fundingAustralian Genomics Health Alliance PhD award
dc.relation.fundingNHMRC 2021396
dc.relation.fundingHospital Research Foundation
dc.relation.fundingRoyal Adelaide Hospital Research Fund
dc.relation.fundingGenomics Health Futures Mission - Medical Research Futures Fund GHFM76777
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/2021396
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1113531
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1123341
dc.rights© The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
dc.source.urihttps://doi.org/10.1186/s40246-025-00844-4
dc.subjectgenomics, prenatal, pregnancy loss, polycystic kidney disease, ADPKD, ARPKD
dc.titleAtypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses
dc.typeJournal article
pubs.publication-statusPublished
ror.fileinfo12309666790001831 13309656840001831 Open Access Published Version
ror.mmsid9917087547001831

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