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Utility of Integrating Genome-Wide Postmortem Testing into Clinical Autopsy Practice in Pediatrics: A Retrospective,
Noriko Watanabe1, Kayoko Ichimura1, Daiju Oba2
1Department of Pathology, Saitama Children's Medical Center, Saitama-shi, Saitama, Japan.
Fetal and Pediatric Pathology
|May 13, 2026
Summary
Postmortem genomic testing aids pediatric autopsy interpretation. This study shows whole-exome sequencing improves diagnostic accuracy and aids family counseling in pediatric cases.
Area of Science:
- Genomics
- Pediatric Pathology
- Clinical Autopsy
Background:
- Pediatric clinical autopsies are crucial but challenging to interpret.
- Genome-wide postmortem testing is a potential tool, but its clinical utility is unclear.
Purpose of the Study:
- To evaluate the utility of postmortem genomic testing in pediatric clinical autopsies.
- To assess the impact of whole-exome sequencing on diagnostic precision and family counseling.
Main Methods:
- Retrospective analysis of pediatric clinical autopsies from 2020-2025.
- Systematic review following the introduction of postmortem genomic testing (whole-exome sequencing).
Main Results:
- Postmortem genomic testing was performed in 27 of 61 autopsies.
- Genomic testing revealed primary findings in 8 cases (30%), with whole-exome sequencing identifying 6 (22%).
- Genomic findings confirmed diagnoses in 5 cases and aided interpretation in 3 others.
Conclusions:
- This is the first autopsy-based evaluation of postmortem genomic testing.
- Postmortem genomic testing improves diagnostic precision and facilitates family counseling in pediatric autopsies.
- Integrating postmortem genomic testing into pediatric autopsy practice is valuable.
