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Key Points Question What proportion of infant mortality is explained by genetic diseases? Findings In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent… Click to show full abstract
Key Points Question What proportion of infant mortality is explained by genetic diseases? Findings In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments positively associated with outcomes were available for 30% of these genetic diseases. Meaning The study results suggest that because treatable genetic diseases are associated with considerable infant mortality, strategies for neonatal diagnosis may be associated with decreased infant mortality.
Journal Title: JAMA Network Open
Year Published: 2023
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