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New Insights on Molecular Autopsy in Sudden Death: A Systematic Review
Luca Tomassini1, Giulia Ricchezze2, Piergiorgio Fedeli3
1International School of Advanced Studies, University of Camerino, 62032 Camerino, Italy.
Diagnostics (Basel, Switzerland)
|June 19, 2024
Summary
Molecular autopsy, a genetic testing approach, helps uncover hidden causes of sudden unexpected death (SUD) when standard forensic exams fail. Standardization and multidisciplinary efforts are crucial for accurate results in these complex cases.
Area of Science:
- Forensic Pathology
- Molecular Genetics
- Autopsy Practice
Background:
- Sudden unexpected deaths (SUD) present diagnostic challenges for pathologists, as conventional autopsy methods often fail to identify the cause.
- Molecular autopsy, utilizing genetic testing, offers a powerful tool to detect underlying genetic conditions contributing to SUD.
- This review addresses the critical need for advanced diagnostic techniques in unexplained mortality cases.
Purpose of the Study:
- To systematically review and assess the role, methodology, utility, and effectiveness of molecular autopsy in clarifying the causes of SUD.
- To evaluate the current state of molecular autopsy in forensic and autopsy practices.
- To identify challenges and propose improvements for molecular autopsy implementation.
Main Methods:
- A systematic review adhering to PRISMA guidelines, registered with PROSPERO.
- Comprehensive literature searches were conducted on PubMed, Scopus, and Web of Science for studies published between 2018 and 2023.
- Data extraction and analysis focused on study scope, tissue types, mutations identified, and publication details from selected articles.
Main Results:
- Out of 1759 initially identified publications, 37 full-text articles were selected for analysis after rigorous screening.
- Genetic mutations were identified in 17 studies, with a total of 47 distinct mutations reported.
- The review highlighted the essential role of molecular investigations when standard autopsy findings are inconclusive.
Conclusions:
- Molecular autopsy is indispensable for resolving unexplained sudden deaths, particularly those with a suspected genetic etiology.
- Standardization of post-mortem molecular protocols and multidisciplinary collaboration are vital for improving diagnostic accuracy and validity.
- Further research and development in molecular autopsy techniques are necessary to enhance its integration into routine autopsy practice.
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