title: The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
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.
authors: School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, ON, K1H 8 M5, Canada. maria.karaceper@gmail.com.
authors: Maria D
authors: MD
authors: Karaceper
authors: Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. pchakraborty@cheo.on.ca.
authors: Pranesh
authors: P
authors: Chakraborty
authors: School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, ON, K1H 8 M5, Canada. dcoyle@uottawa.ca.
authors: Doug
authors: D
authors: Coyle
authors: Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. kwilson@ohri.ca.|Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada. kwilson@ohri.ca.
authors: Kumanan
authors: K
authors: Wilson
authors: Department of Pediatrics, Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. jonathan.kronick@sickkids.ca.
authors: Jonathan B
authors: JB
authors: Kronick
authors: Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. shawken@ohri.ca.
authors: Steven
authors: S
authors: Hawken
authors: Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. chdavies@cheo.on.ca.
authors: Christine
authors: C
authors: Davies
authors: Manitoba Centre for Health Policy, Department of Community Health Sciences, College of Medicine, Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. marni_brownell@cpe.umanitoba.ca.
authors: Marni
authors: M
authors: Brownell
authors: Departments of Obstetrics & Gynecology and Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada. linda.dodds@iwk.nshealth.ca.
authors: Linda
authors: L
authors: Dodds
authors: Department of Pediatrics, Division of Clinical & Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. annette.feigenbaum@sickkids.ca.
authors: Annette
authors: A
authors: Feigenbaum
authors: Better Outcomes Registry & Network (BORN) Ontario, Ottawa, Ontario, Canada. DFell@bornontario.ca.
authors: Deshayne B
authors: DB
authors: Fell
authors: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia, USA. sgg4@cdc.gov.
authors: Scott D
authors: SD
authors: Grosse
authors: Institute for Clinical Evaluative Sciences, Toronto, Ontario, Canada. astrid.guttmann@ices.on.ca.|Department of Pediatrics, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. astrid.guttmann@ices.on.ca.|Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. astrid.guttmann@ices.on.ca.
authors: Astrid
authors: A
authors: Guttmann
authors: Medical Genetics, CHU Sainte-Justine and Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada. anne-marie.laberge.hsj@ssss.gouv.qc.ca.
authors: Anne-Marie
authors: AM
authors: Laberge
authors: Department of Paediatrics and Child Health, College of Medicine, Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. amhanni@hsc.mb.ca.
authors: Aizeddin
authors: A
authors: Mhanni
authors: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada. fiona.miller@utoronto.ca.
authors: Fiona A
authors: FA
authors: Miller
authors: Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. john.mitchell@muhc.mcgill.ca.
authors: John J
authors: JJ
authors: Mitchell
authors: Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada. meranda.nakhla@mcgill.ca.
authors: Meranda
authors: M
authors: Nakhla
authors: Genetics, Metabolism and Pediatrics, London Health Sciences Centre, Western University, London, Ontario, Canada. Chitra.Prasad@lhsc.on.ca.
authors: Chitra
authors: C
authors: Prasad
authors: Department of Paediatrics and Child Health, College of Medicine, Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada. cgreenberg@exchange.hsc.mb.ca.
authors: Cheryl
authors: C
authors: Rockman-Greenberg
authors: Department of Paediatrics, Section of Clinical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada. Rebecca.Sparkes@albertahealthservices.ca.
authors: Rebecca
authors: R
authors: Sparkes
authors: School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, ON, K1H 8 M5, Canada. bwilson@uottawa.ca.
authors: Brenda J
authors: BJ
authors: Wilson
authors: School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, 451 Smyth Rd, Ottawa, ON, K1H 8 M5, Canada. bpotter@uottawa.ca.
authors: Beth K
authors: BK
authors: Potter
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D017048:Health Care Costs / Q000706:statistics & numerical data; D006760:Hospitalization / Q000191:economics; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008297:Male; D015997:Neonatal Screening; D009864:Ontario
chemical_list: D042964:Acyl-CoA Dehydrogenase