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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