Dataset Information

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 < 0.001), and had similarly high rates of redirection of care (86% vs. 79%; p = 0.28).

Conclusion

Genetic disorders were suspected in many infants but found in a minority. Approximately one-third of diagnosed infants died before a laboratory-confirmed genetic diagnosis was made. This highlights the need to improve genetic diagnostic evaluation in the NICU, particularly to support end-of-life decision making.

SUBMITTER: Wojcik MH

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

REPOSITORIES: biostudies-literature

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Publications

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]

PMID: 29790870

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Dataset Information

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

Purpose

Methods

Results

Conclusion

Publications

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

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