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Postmortem Genetic Testing in Sudden Unexpected Death: A Narrative Review.

Shahad A Alzahrani1, Nour F Alswaimil1, Alia M Alammari1

  • 1Department of General Medicine, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, SAU.

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Summary

Molecular autopsy investigates sudden unexpected death (SUD) when autopsies are negative. Genetic testing identifies inherited conditions in victims and their families, aiding diagnosis and prevention.

Keywords:
genetic testingmolecular autopsymolecular geneticspostmortemsudden death

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Area of Science:

  • Forensic Medicine
  • Genetics
  • Molecular Biology

Background:

  • Sudden unexpected death (SUD) presents diagnostic challenges, often resulting in a negative autopsy.
  • A molecular autopsy is crucial for identifying underlying genetic causes when conventional methods fail.

Purpose of the Study:

  • To review genetic etiologies of SUD.
  • To discuss molecular autopsy tools and genetic screening in relatives.
  • To emphasize the role of molecular autopsy in forensic investigations.

Main Methods:

  • DNA extraction from whole blood and fresh frozen tissues.
  • Genetic analysis using Sanger sequencing and next-generation sequencing (NGS).
  • NGS offers advantages in cost-effectiveness, speed, and whole-exome sequencing capability.

Main Results:

  • SUD has diverse cardiac (channelopathies, cardiomyopathies) and non-cardiac (epilepsy, metabolic disorders) genetic causes.
  • Genetic overlap exists between channelopathies (e.g., Long QT Syndrome) and epilepsy.
  • Fatty acid oxidation disorders are significant inherited metabolic causes of SUD in infants.

Conclusions:

  • Molecular autopsy is essential for determining the cause of SUD when autopsies are inconclusive.
  • Identifying genetic mutations aids in diagnosing the cause of death and implementing preventive strategies for relatives.
  • Genetic screening of surviving relatives is vital for understanding hereditary risks.