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Review
. 2024 May 30;14(11):1151.
doi: 10.3390/diagnostics14111151.

New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

Luca Tomassini  1 , Giulia Ricchezze  2 , Piergiorgio Fedeli  3 , Massimo Lancia  4 , Cristiana Gambelunghe  4 , Francesco De Micco  5 , Mariano Cingolani  2 , Roberto Scendoni  2
Affiliations
Review

New Insights on Molecular Autopsy in Sudden Death: A Systematic Review

Luca Tomassini et al. Diagnostics (Basel). .

Abstract

Sudden unexpected deaths often remain unresolved despite forensic examination, posing challenges for pathologists. Molecular autopsy, through genetic testing, can reveal hidden causes undetectable by standard methods. This review assesses the role of molecular autopsy in clarifying SUD cases, examining its methodology, utility, and effectiveness in autopsy practice. This systematic review followed PRISMA guidelines and was registered with PROSPERO (registration number: CRD42024499832). Searches on PubMed, Scopus, and Web of Science identified English studies (2018-2023) on molecular autopsy in sudden death cases. Data from selected studies were recorded and filtered based on inclusion/exclusion criteria. Descriptive statistics analyzed the study scope, tissue usage, publication countries, and journals. A total of 1759 publications from the past 5 years were found, with 30 duplicates excluded. After detailed consideration, 1645 publications were also excluded, leaving 84 full-text articles for selection. Out of these, 37 full-text articles were chosen for analysis. Different study types were analyzed. Mutations were identified in 17 studies, totaling 47 mutations. Molecular investigations are essential when standard exams fall short in determining sudden death causes. Expertise in molecular biology is crucial due to diverse genetic conditions. Discrepancies in post-mortem protocols affect the validity of results, making standardization necessary. Multidisciplinary approaches and the analysis of different tissue types are vital.

Keywords: forensic examination; genetic testing; molecular autopsy; sudden death; sudden death in young people (SUDY); sudden unexpected death.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Descriptive diagram of the paper selection process.
Figure 2
Figure 2
Types of samples used in the various articles. FFPE: formalin-fixed and paraffin-embedded left ventricular tissue.
Figure 3
Figure 3
Summary graph on the frequency of mutations.
See this image and copyright information in PMC

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