Presentation: Sudden death in a child under 18 years of age

A nine-month-old boy has been brought into the emergency department in cardiac arrest. He is sadly declared dead on arrival. His parents report that he seemed well yesterday and went to sleep in his cot at 7pm. On going to wake him at 7am the following day, they found him cold and unresponsive. There is nothing in the history that points to a cause of death.

• Genomic testing should be considered:
• • in the sudden death of a child under 18 years of age that remains unexplained after the standard investigation protocols, including post-mortem; and
  • when DNA is available from the proband and both biological parents for a trio whole genome sequencing (WGS) analysis; or
  • when DNA is available from the proband and one biological parent only.

• Local sudden infant death and sudden unexplained child death protocols should be followed, including standard investigations and post-mortem, and the results awaited.
• If the above testing is unable to determine cause of death, genomic testing may be indicated.
• To decide whether genomic testing is appropriate, a specialist multidisciplinary team meeting should be convened, which might include the designated doctor for child deaths, pathology and clinical genetics services.
• Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • For information about how to arrange testing in Wales, Scotland or Northern Ireland, see our dedicated Knowledge Hub resource.
• If genomic testing is deemed appropriate and the family provides consent for testing, the test to request would be R441 Unexplained death in infancy and sudden unexplained death in childhood. The test comprises WGS and analysis of a panel of genes known to be associated with sudden unexplained death in infancy and childhood. To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
• As this test involves WGS, you will need to:
  • submit at least one, but ideally two, parental samples alongside the patient sample (duo or trio testing), for which blood should be taken in an EDTA (purple-topped) tube;
  • complete an NHS GMS test order form with details of the proband and their parents, including details of the phenotype (using human phenotype ontology (HPO) terms or clinical summary) and the appropriate panel name(s) with associated R number (see How to complete a test order form for WGS for support); and
  • complete an NHS GMS record of discussion (RoD) form for each person being tested – for example, if you are undertaking trio testing of an affected child and their parents, you will need three RoD forms (see How to complete a RoD form for support).
• Ensure throughout this process that the parents are signposted to appropriate support.
• Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

For clinicians

• Genomics England: Genomic Medicine Service (GMS) Signed Off Panels Resource
• NHS England: National Genomic Test Directory
• The Royal College of Pathologists and Royal College of Paediatrics and Child Health: Sudden unexpected death in infancy and childhood: Multi-agency guidelines for care and investigation (PDF, 107 pages)

For patients

• SUDC UK
• The Lullaby Trust