尽管经过法医检查,突然的意外死亡通常仍未解决,给病理学家带来挑战。分子尸检,通过基因检测,可以揭示标准方法无法检测到的隐藏原因。这篇综述评估了分子尸检在澄清SUD病例中的作用,检查其方法论,实用程序,以及尸检实践的有效性。该系统评价遵循PRISMA指南,并在PROSPERO注册(注册号:CRD42024499832)。在PubMed上搜索,Scopus,和WebofScience确定了有关猝死病例的分子尸检的英语研究(2018-2023)。根据纳入/排除标准记录和过滤来自选定研究的数据。描述性统计分析了研究范围,组织使用情况,出版国家,和期刊。共发现过去5年的1759种出版物,排除了30个重复项。经过详细考虑,1645种出版物也被排除在外,留下84篇全文供选择。在这些中,选择了37篇全文进行分析。分析了不同的研究类型。在17项研究中发现了突变,总共有47个突变.当标准考试不足以确定猝死原因时,分子调查至关重要。由于不同的遗传条件,分子生物学的专业知识至关重要。验尸方案的差异会影响结果的有效性,标准化是必要的。多学科方法和不同组织类型的分析是至关重要的。
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.