Sudden unexpected infant death can be due to a broad range of conditions, some of which require specialized testing for diagnosis.
Indications to screen for an inherited metabolic disorder:
(1) no evidence of newborn screening
Indications for genetic testing:
(1) family history of genetic disorder or unexplained death
(2) consanguinity in family
(3) malformations suggestive of a hereditary disorder
(4) no other cause found after a careful evaluation
Since genetic testing can be expensive and budgets may be limited, testing may need to be restricted to only those cases with high pretest probability of a positive finding.
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