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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Research

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Authors: Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller, John J. Mitchell, Meranda Nakhla, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Brenda J. Wilson, Beth K. Potter, on behalf of the Canadian Inherited Metabolic Diseases Research Network

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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Abstract

Background

There is no consensus in the literature regarding the impact of false positive newborn screening results on early health care utilization patterns. We evaluated the impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in a cohort of Ontario infants.

Methods

The cohort included all children who received newborn screening in Ontario between April 1, 2006 and March 31, 2010. Newborn screening and diagnostic confirmation results were linked to province-wide health care administrative datasets covering physician visits, emergency department visits, and inpatient hospitalizations, to determine health service utilization from April 1, 2006 through March 31, 2012. Incidence rate ratios (IRRs) were used to compare those with false positive results for MCADD to those with negative newborn screening results, stratified by age at service use.

Results

We identified 43 infants with a false positive newborn screening result for MCADD during the study period. These infants experienced significantly higher rates of physician visits (IRR: 1.42) and hospitalizations (IRR: 2.32) in the first year of life relative to a screen negative cohort in adjusted analyses. Differences in health services use were not observed after the first year of life.

Conclusions

The higher use of some health services among false positive infants during the first year of life may be explained by a psychosocial impact of false positive results on parental perceptions of infant health, and/or by differences in underlying health status. Understanding the impact of false positive newborn screening results can help to inform newborn screening programs in designing support and education for families. This is particularly important as additional disorders are added to expanded screening panels, yielding important clinical benefits for affected children but also a higher frequency of false positive findings.
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Metadata
Title
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study
Authors
Maria D. Karaceper
Pranesh Chakraborty
Doug Coyle
Kumanan Wilson
Jonathan B. Kronick
Steven Hawken
Christine Davies
Marni Brownell
Linda Dodds
Annette Feigenbaum
Deshayne B. Fell
Scott D. Grosse
Astrid Guttmann
Anne-Marie Laberge
Aizeddin Mhanni
Fiona A. Miller
John J. Mitchell
Meranda Nakhla
Chitra Prasad
Cheryl Rockman-Greenberg
Rebecca Sparkes
Brenda J. Wilson
Beth K. Potter
on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0391-5

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