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

Authors

Maria D. Karaceper, University of Ottawa
Pranesh Chakraborty, Children's Hospital of Eastern Ontario, Ottawa
Doug Coyle, University of Ottawa
Kumanan Wilson, Ottawa Hospital Research Institute
Jonathan B. Kronick, Hospital for Sick Children University of Toronto
Steven Hawken, Ottawa Hospital Research Institute
Christine Davies, Children's Hospital of Eastern Ontario, Ottawa
Marni Brownell, Manitoba Centre for Health Policy
Linda Dodds, Dalhousie University, Faculty of Medicine
Annette Feigenbaum, Hospital for Sick Children University of Toronto
Deshayne B. Fell, Better Outcomes Registry & Network (BORN) Ontario
Scott D. Grosse, Coordinating Center for Health Promotion
Astrid Guttmann, Institute for Clinical Evaluative Sciences
Anne Marie Laberge, CHU Sainte-Justine - Le Centre Hospitalier Universitaire Mère-Enfant
Aizeddin Mhanni, University of Manitoba
Fiona A. Miller, Institute of Health Policy, Management and Evaluation
John J. Mitchell, Centre Universitaire de Santé McGill, Hôpital de Montreal Pour Enfants
Meranda Nakhla, Centre Universitaire de Santé McGill, Hôpital de Montreal Pour Enfants
Chitra Prasad, Western UniversityFollow
Cheryl Rockman-Greenberg, University of Manitoba
Rebecca Sparkes, Alberta Children's Hospital
Brenda J. Wilson, University of Ottawa
Beth K. Potter, University of Ottawa

Document Type

Article

Publication Date

2-3-2016

Journal

Orphanet Journal of Rare Diseases

Volume

11

Issue

1

URL with Digital Object Identifier

10.1186/s13023-016-0391-5

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.