Evidence map›Paper›PMID 41225654›Full record

ArticleHuman genomics2025

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

Mahalia 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 and 23 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Mahalia S B Frank *Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Melissa K BennettDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Thuong T HaDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Lynette MooreAdelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.
Peer ArtsDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Alicia B ByrneDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Milena BabicDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Luis Arriola-MartinezDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
John ToubiaACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.
Peter J BrautiganDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Jinghua FengACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, SA, Australia.
Quenten SchwarzDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Paul Q ThomasRobinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.
Sandra G PiltzRobinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.
Melissa A WhiteRobinson Research Institute, School of Biomedicine, The University of Adelaide, Adelaide, SA, Australia.
Ali MoghimiThe Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
Kate StrachanAnatomical Pathology, Royal Women's Hospital (A Division of Royal Children's Hospital Laboratory Services), Melbourne, VIC, Australia.
Edward KwanDepartment of Pathology, Monash Health, Melbourne, VIC, Australia.
Amanda SpringerDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Miranda Lewit-MendesMonash Genetics, Monash Health, Melbourne, VIC, Australia.
Jarrad DearmanPaediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
Tenielle DavisRoyal Women's Hospital, Melbourne, VIC, Australia.
Lucy KevinDepartment of Clinical Genetics, Sydney Children's Hospitals Network-Westmead, Sydney, NSW, Australia.
Hugh J McCarthyKidGen Collaborative, Australian Genomics Health Alliance, Parkville, VIC, Australia.
Jan LiebeltAdelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia.
Emma KrzesinskiDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Matthew ReganDepartment of Paediatrics, Monash University, Melbourne, VIC, Australia.
Kunal VermaMonash Genetics, Monash Health, Melbourne, VIC, Australia.
George McGillivrayVictorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, VIC, Australia.
Kushani JayasingheDepartment of Nephrology, Monash Health, Clayton, VIC, Australia.
Matilda R JacksonDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia.
Christopher P BarnettAdelaide Medical School, University of Adelaide, Adelaide, SA, 5000, Australia. christopher.barnett@sa.gov.au.
Hamish S ScottDepartment of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Frome Road, Adelaide, SA, 5000, Australia. hamish.scott@sa.gov.au.ORCID 0000-0002-5813-631X

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Australian Genomics Health Alliance NHMRC, Targeted Call for Research into Preparing Australia for the Genomics Revolution in Healthcare GNT1113531Genomics Health Futures Mission - Medical Research Futures Fund GHFM76777Medical Research Futures Fund Early to Mid-Career Researchers Grant Opportunity APP2023357National Health and Medical Research Council APP2021396NHGRI NIH HHS UM1 HG008900
6 · The paper itself

Abstract

backgroundPrenatal 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.

resultsGenomic autopsy was able to delineate the genetic basis of prenatal PKD in all five families.

conclusionOur 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.

Indexed as

Polycystic Kidney DiseasesAdultAutopsyExome SequencingFemaleFetusGenomicsHumansKidneyMalePregnancyPrenatal DiagnosisReceptors, Cell SurfaceTRPP Cation ChannelsPKHD1 protein, humanReceptors, Cell SurfaceTRPP Cation ChannelsADPKDARPKDGenomicsPolycystic kidney diseasePregnancy lossPrenatal

Identifiers

PMID41225654
PMCPMC12607061

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.