Infant Mortality: the Contribution of Genetic Disorders

OBJECTIVE: To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder. STUDY DESIGN: A retrospective analysis of the electronic medical records of infants born from January 1, 2011 to June 1, 2017 who died prior to one year of age. RESULTS: 573 deceased infants were identified. 117 were confirmed to have a molecular or cytogenetic diagnosis in a clinical diagnostic laboratory and an additional 7 were diagnosed by research testing for a total of 124/573 (22%) diagnosed infants. 67/124 (54%) had chromosomal disorders and 58/124 (47%) had single gene disorders (one infant had both). The proportion of diagnoses made by sequencing technologies, such as exome sequencing, increased over the years. CONCLUSIONS: The prevalence of confirmed genetic disorders within our cohort of infant deaths is higher than previously reported. Increased efforts are needed to further understand the mortality burden of genetic disorders in infancy.