Utility of Integrating Genome-Wide Postmortem Testing into Clinical Autopsy Practice in Pediatrics: A Retrospective, Single-Center Study.

Abstract

Background: Pediatric clinical autopsy plays an important role; however, interpretation of autopsy findings is often challenging. Genome-wide postmortem testing has emerged as a promising approach, yet its utility in clinical autopsy remains uncertain. Methods: This retrospective, single-center study included systematic analysis of all pediatric clinical autopsies performed between 2020 and 2025, following institutional introduction of postmortem genomic testing using whole-exome sequencing. Results: Among 61 autopsies, postmortem genomic testing was performed in 27 cases, revealing primary findings in 8 (30%), including 6 (22%) identified by whole-exome sequencing. Among cases with primary findings, genomic findings confirmed the diagnosis in 5 cases and facilitated interpretation of autopsy findings in the remaining 3 cases. Conclusion: This study provides the first autopsy-based evaluation of postmortem genomic testing, demonstrating improved diagnostic precision and facilitating family counseling. These findings highlight the value of integrating postmortem genomic testing into pediatric autopsy practice.