How to use genetic testing after sudden infant death syndrome

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 \n\n\n\nFigure 1 \nThe triple risk hypothesis.\n\n\n\nWhen 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).\n\nView this table:\n\nTable 1 \nDefinitions\n\n\n\nA small proportion of these cases may be linked to an underlying cardiac …