Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.

ABSTRACT:

Background and objectives

Many genetic conditions present in the NICU, where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.

Methods

Prospective cohort study evaluating outcomes after genetics consultation in a level IV NICU via parent report and electronic medical record review. Eligible infants were genetically undiagnosed at enrollment. Parent surveys were administered at baseline and 3, 6, and 12 months following enrollment and assessed genetic testing utility as

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC11614160 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature