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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 the NICU (median 13.5 vs. 5.0 days; p?=?0.003), were older at death (median 92.0 vs. 17.5 days; p?

SUBMITTER: Wojcik MH 

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

REPOSITORIES: biostudies-literature

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

Wojcik Monica H MH   Schwartz Talia S TS   Yamin Inbar I   Edward Heather L HL   Genetti Casie A CA   Towne Meghan C MC   Agrawal Pankaj B PB  

Genetics in medicine : official journal of the American College of Medical Genetics 20180412 11


<h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>A total of 2,670 infants  ...[more]

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