J Pediatr Genet 2018; 07(04): 143-149
DOI: 10.1055/s-0038-1668079
Review Article
Georg Thieme Verlag KG Stuttgart · New York

A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

Authors

  • Laura Jane Heathfield

    1   Division of Forensic Medicine and Toxicology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa
    2   MRC/UCT Research Unit for Genomic and Precision Medicine, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Department of Pathology, University of Cape Town, Cape Town, South Africa
  • Lorna Jean Martin

    1   Division of Forensic Medicine and Toxicology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa
  • Raj Ramesar

    2   MRC/UCT Research Unit for Genomic and Precision Medicine, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, Department of Pathology, University of Cape Town, Cape Town, South Africa
Further Information

Publication History

30 March 2018

25 June 2018

Publication Date:
18 August 2018 (online)

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Abstract

Sudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.