Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses
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.
Authors
- Jan Liebelt
- Tenielle Davis
- Miranda Lewit-Mendes (ORCID: https://orcid.org/0000-0001-7744-6471)
- Alicia B. Byrne (ORCID: https://orcid.org/0000-0002-8141-1818)
- Lynette Moore (ORCID: https://orcid.org/0000-0002-0487-3197)
- Luis Arriola‐Martinez (ORCID: https://orcid.org/0000-0001-9806-0105)
- Melissa K. Bennett (ORCID: https://orcid.org/0000-0002-0809-8597)
- Lucy Kevin
- Hamish S. Scott (ORCID: https://orcid.org/0000-0002-5813-631X)
- Milena Babic (ORCID: https://orcid.org/0000-0002-6526-1020)
- Thuong Ha (ORCID: https://orcid.org/0000-0002-4408-2613)
- Mahalia S. B. Frank (ORCID: https://orcid.org/0000-0002-6668-4631)
- Ali Moghimi (ORCID: https://orcid.org/0000-0001-9578-2612)
- Matilda R. Jackson (ORCID: https://orcid.org/0000-0001-7547-7653)
- Quenten Schwarz (ORCID: https://orcid.org/0000-0002-5958-4181)
- Kushani Jayasinghe (ORCID: https://orcid.org/0000-0002-9268-8505)
- Christopher Barnett (ORCID: https://orcid.org/0000-0003-1717-3824)
- Peter J Brautigan (ORCID: https://orcid.org/0000-0001-9570-5879)
- Sandra Piltz (ORCID: https://orcid.org/0000-0003-3386-8140)
- Hugh J. McCarthy (ORCID: https://orcid.org/0000-0001-7357-4310)
- Edward Kwan
- John Toubia (ORCID: https://orcid.org/0000-0002-5135-6504)
- Jarrad Dearman
- Amanda Springer (ORCID: https://orcid.org/0000-0001-5363-8268)
- Kate Strachan
- Peer Arts (ORCID: https://orcid.org/0000-0002-6742-6239)
- Kunal Verma (ORCID: https://orcid.org/0000-0002-0712-1011)
- George McGillivray (ORCID: https://orcid.org/0000-0002-3878-9057)
- Emma Krzesinski
- Jinghua Feng (ORCID: https://orcid.org/0000-0001-6821-5401)
- Melissa White (ORCID: https://orcid.org/0000-0002-8748-9210)
- Paul Q. Thomas
- Matthew Regan
Institutions
- South Australia Pathology (AU)
- The University of Sydney (AU)
- Royal Children's Hospital (AU)
- Royal Women's Hospital (AU)
- The University of Melbourne (AU)
- University of South Australia (AU)
- Women's and Children's Hospital (AU)
- Children's Hospital at Westmead (AU)
- Victorian Clinical Genetics Services (AU)
- Monash Health (AU)
- South Australian Health and Medical Research Institute (AU)
- Centre for Cancer Biology (AU)
- Sydney Children’s Hospitals Network (AU)
- Melbourne Genomics Health Alliance (AU)
- Monash University (AU)
- The University of Adelaide (AU)
- Macquarie University (AU)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1186/s40246-025-00844-4
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Genomic Health
- Hospital Research Foundation
- Broad Institute
- Royal Adelaide Hospital
- Australian Genomics Health Alliance
- Medical Research Council
- National Health and Medical Research Council
- Royal Adelaide Hospital Research Fund