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

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.

Keywords: medico-legal investigation; negative autopsy; sudden infant death syndrome.

Fig. 1

Number of original articles and case reports published per year. The majority of articles (85%) were published within the last 11 years.

Fig. 2

Number of articles published per country. A total of 41% of articles represented cohorts from the United States.

Fig. 3

Percentages of cases potentially resolved following molecular autopsies, which was significantly different between infants (0–1 years old) and cohorts of “sudden unexpected death in the young” (1 to ∼45 years old).

Fig. 4

The percentage of cases potentially resolved by molecular autopsies increased as the number of genes analyzed increased. This is represented in this figure by means of categorizing the data; however, a Spearman rank sum test on the numerical data ( Table 1 ) showed that this association was statistically significant ( p  = 0.0179).