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

ABSTRACT:

Background and objectives

Many genetic conditions present in the neonatal intensive care unit (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 records (EMR) review. Eligible infants were genetically undiagnosed at enrollment. Parent surveys were administered at baseline and three, six-, and 12-months following enrol

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC11245053 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature