Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.

ABSTRACT:

Importance

Understanding the causes of infant mortality shapes public health, surveillance, and research investments. However, the association of single-locus (mendelian) genetic diseases with infant mortality is poorly understood.

Objective

To determine the association of genetic diseases with infant mortality.

Design, setting, and participants

This cohort study was conducted at a large pediatric hospital system in San Diego County (California) and included 546 infants (112 infant deaths [20.5%] and 434 infants [79.5%] with acute illness who survived; age, 0 to 1 year) who underwent diagnostic whole-genome sequencing (WGS) between January 2015 and December 2020. Data analysis was conducted between 2015 and 2022.

Exposure

Infants underwent WGS either premortem

SUBMITTER: Owen MJ 

PROVIDER: S-EPMC9912130 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature