Autopsy for Medical Diagnostics: 3rd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 August 2025 | Viewed by 1096

Special Issue Editors


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Guest Editor
Lino Rossi Research Center, Department of Biomedical, Surgical and Dental Sciences, University of Milan, 20122 Milan, Italy
Interests: anatomic pathology; cardiovascular pathology; autopsy for medical diagnostics; pathology of sudden unexpected death
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Guest Editor
Departamento de Patologia e Medicina Legal, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900 Ribeirão Preto, São Paulo, Brasil
Interests: cardiovascular pathology; post-mortem investigation; autopsy; perinatal pathology; sudden unexpected death; sudden cardiac death; sudden infant death syndrome; cardiac conduction system; general pathology; surgical pathology; pulmonary pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue of Diagnostics addresses the scope of the practice of autopsy for medical diagnostics.

An autopsy is a post-mortem examination of the deceased body and organs to determine the cause of death and study the pathological changes. Autopsy is an anatomopathological professional activity that requires a high level of technical ability and knowledge for its performance and interpretation.

The importance of post-mortem investigations for the documentation of the cause of death will be discussed in this Special Issue, including the expanding roles of molecular autopsy. The indications and dissection techniques of autopsy will also be reviewed in this Special Issue, along with interpretations of post-mortem findings described in relation to clinical diagnostics and discussions about clinicopathological correlations. The role of the pathologist, especially the cardiovascular pathologist, will be discussed in terms of the evaluation of the cause of death. The objectives of autopsy will be considered, including assessments of the validity and appropriateness of diagnostic, medical, and surgical procedures. The provision of information to the patient’s relatives, to colleague physicians, to society at large, and to the medical literature, as discovered during the evaluation of subjects that died suddenly and unexpectedly, will also be addressed.

Basic information on virtual autopsies based on diagnostic imaging studies will be provided.  The increasing need for quality assurance in relation to autopsies, medical education, and training will also be presented. The teaching of autopsy procedures is “vital” in preserving and increasing medical knowledge in order to diminish undiagnosed medical illnesses, as stated in an old Latin aphorism: “Hic mors gaudet surrurrere vitae,” literally: “Here death is pleased to help life”.

Dr. Giulia Ottaviani
Dr. Simone G. Ramos
Guest Editors

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Keywords

  • autopsy
  • post-mortem investigation
  • cardiovascular pathology
  • sudden cardiac death
  • sudden unexpected death
  • perinatal autopsy
  • molecular autopsy
  • virtual autopsy

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Published Papers (1 paper)

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Review

22 pages, 1404 KiB  
Review
Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing
by Jennifer Fadoni, Agostinho Santos, António Amorim and Laura Cainé
Diagnostics 2025, 15(4), 460; https://doi.org/10.3390/diagnostics15040460 - 13 Feb 2025
Viewed by 764
Abstract
Molecular autopsy is a term employed to describe the investigation of the cause of death through the analysis of genetic information using biological samples collected post-mortem. Its utility becomes evident in situations where conventional medico-legal autopsy methods are not able to identify the [...] Read more.
Molecular autopsy is a term employed to describe the investigation of the cause of death through the analysis of genetic information using biological samples collected post-mortem. Its utility becomes evident in situations where conventional medico-legal autopsy methods are not able to identify the cause of death, i.e., in sudden cardiac death (SCD) cases in young individuals, where deaths are commonly due to genetic cardiac conditions, such as cardiomyopathies and channelopathies. The recent advancement in high-throughput sequencing techniques, such as next-generation sequencing (NGS), has allowed the investigation of a high number of genomic regions in a more cost-effective and faster approach. Unlike traditional sequencing methods, which can only sequence one DNA fragment at a time, NGS can sequence millions of short polynucleotide fragments simultaneously. This parallel approach reduces both the time and cost required to generate large-scale genomic data, making it a useful tool for applications ranging from basic research to molecular autopsy. In the forensic context, by enabling the examination of multiple genes or entire exomes and genomes, NGS enhances the accuracy and depth of genetic investigations, contributing to a better understanding of complex inherited diseases. However, challenges remain, such as the interpretation of variants of unknown significance (VUS), the need for standardized protocols, and the high demand for specialized bioinformatics expertise. Despite these challenges, NGS continues to offer significant promise for enhancing the precision of molecular autopsies. The goal of this review is to assess the effectiveness of contemporary advancements in molecular autopsy methodologies when applied to cases of SCD in young individuals and to present an overview of the steps involved in the analysis of NGS data and the interpretation of genetic variants. Full article
(This article belongs to the Special Issue Autopsy for Medical Diagnostics: 3rd Edition)
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