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Research in practice
How to use genetic testing after sudden infant death syndrome
  1. Lisa Jennifer Bryson1,
  2. Shelagh Joss2
  1. 1 General Paediatrics, Royal Hospital for Children, Glasgow, UK
  2. 2 West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK
  1. Correspondence to Dr Lisa Jennifer Bryson, General Paediatrics, Royal Hospital for Children, Glasgow G51 4TF, UK; lisa.bryson{at}nhs.scot

https://doi.org/10.1136/archdischild-2020-320835

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    Since the early 1990s, the rate of sudden infant death syndrome (SIDS) has reduced by over 80% in the UK, principally due to public health education regarding safer sleep, in particular the ‘Back-to-Sleep’ campaign, and to a smaller degree the introduction of newborn screening for metabolic conditions.1 2 Despite this, SIDS is still one of the leading causes of postneonatal infant death in developed countries. The triple risk hypothesis states that SIDS occurs due to having (1) a vulnerable infant (2) during a critical development period and (3) a minor exogenous stressor (figure 1). Genetic testing is likely to develop a bigger role in identifying vulnerabilities in the future as research in this field progresses and testing becomes easier.3

    Figure 1

    The triple risk hypothesis.

    Current practice

    When an infant dies unexpectedly (SUDI), a full review of the clinical history, death scene investigation, clinical investigations (including biochemistry, toxicology, microbiology, virology and metabolic tests) and postmortem will be arranged. If no cause of death is found then the diagnosis is SIDS or unexplained SUDI (see table 1).

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    Table 1

    Definitions

    A small proportion of these cases may be linked to an underlying …

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    Footnotes

    • Contributors LJB originated the concept and drafted the manuscript. SJ edited and contributed to the content.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.