Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.

ABSTRACT:

Purpose

Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.

Methods

This is a retrospective analysis of infants admitted to our NICU between 1 January 2011 and 31 December 2015 who were deceased at the time of records review, with age at death less than 5 years.

Results

A total of 2,670 infants were admitted; 170 later died. One hundred six of 170 (62%) had an evaluation for a genetic or metabolic disorder. Forty-seven of 170 (28%) had laboratory-confirmed genetic diagnoses, although 14/47 (30%) diagnoses were made postmortem. Infants evaluated for a genetic disorder spent more time in th

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC6185816 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature