Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Dec;7(4):143-149.
doi: 10.1055/s-0038-1668079. Epub 2018 Aug 18.

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

Laura Jane Heathfield  1   2 , Lorna Jean Martin  1 , Raj Ramesar  2
Affiliations
Review

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

Laura Jane Heathfield et al. J Pediatr Genet. 2018 Dec.

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.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest None.

Figures

Fig. 1
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
Fig. 2
Number of articles published per country. A total of 41% of articles represented cohorts from the United States.
Fig. 3
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
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).
See this image and copyright information in PMC

References

    1. Hauck F R, Tanabe K O. International trends in sudden infant death syndrome: stabilization of rates requires further action. Pediatrics. 2008;122(03):660–666. - PubMed
    1. Byard R W, Krous H F. Sudden infant death syndrome: overview and update. Pediatr Dev Pathol. 2003;6(02):112–127. - PubMed
    1. Krous H F, Beckwith J B, Byard R W et al. Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics. 2004;114(01):234–238. - PubMed
    1. Mazzanti A, Priori S G. Molecular autopsy for sudden unexplained death? Time to discuss pros and cons. J Cardiovasc Electrophysiol. 2012;23(10):1099–1102. - PubMed
    1. Baruteau A E, Tester D J, Kapplinger J D, Ackerman M J, Behr E R. Sudden infant death syndrome and inherited cardiac conditions. Nat Rev Cardiol. 2017;14(12):715–726. - PubMed