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

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
› Author Affiliations
Further Information

Publication History

30 March 2018

25 June 2018

Publication Date:
18 August 2018 (eFirst)

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.