title: Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.
abstract: To explore the psychosocial implications of diagnostic uncertainty that result from inconclusive results generated by newborn bloodspot screening (NBS) for cystic fibrosis (CF).
  
  
  
  Using a mixed methods prospective cohort study of children who received NBS for CF, we compared psychosocial outcomes of parents whose children who received persistently inconclusive results with those whose children received true positive or screen-negative results.
  
  
  
  Mothers of infants who received inconclusive results (n = 17), diagnoses of CF (n = 15), and screen-negative results (n = 411) were surveyed; 23 parent interviews were completed. Compared with mothers of infants with true positive/screen-negative results, mothers of infants with inconclusive results reported greater perceived uncertainty (P < .006) but no differences in anxiety or vulnerability (P > .05). Qualitatively, parents valued being connected to experts but struggled with the meaning of an uncertain diagnosis, worried about their infant's health-related vulnerability, and had mixed views about surveillance.
  
  
  
  Inconclusive CF NBS results were not associated with anxiety or vulnerability but led to health-related uncertainty and qualitative concerns. Findings should be considered alongside efforts to optimize protocols for CF screening and surveillance. Educational and psychosocial supports are warranted for these families.
authors.affiliation: Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca.
authors.forename: Robin Z
authors.initials: RZ
authors.lastname: Hayeems
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
authors.forename: Fiona A
authors.initials: FA
authors.lastname: Miller
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
authors.forename: Carolyn J
authors.initials: CJ
authors.lastname: Barg
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Li Ka Shing Knowledge Institute of St. Michael's Hospital, Toronto, Canada.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Bombard
authors.affiliation: Department of Family and Community Medicine, Mount Sinai Hospital, Sinai Health System, University of Toronto, Toronto, Canada.
authors.forename: June C
authors.initials: JC
authors.lastname: Carroll
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: Tam
authors.affiliation: Department of Psychology, The Hospital for Sick Children, Toronto, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Kerr
authors.affiliation: Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Canada.
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.affiliation: School of Epidemiology, Public Health & Preventive Medicine, Faculty of Medicine, University of Ottawa, Ottawa, Canada.
authors.forename: Beth K
authors.initials: BK
authors.lastname: Potter
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Patton
authors.affiliation: Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Department of Public Health, University of Helsinki, Helsinki, Finland.
authors.forename: Jessica P
authors.initials: JP
authors.lastname: Bytautas
authors.affiliation: Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Louise
authors.initials: L
authors.lastname: Taylor
authors.affiliation: Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: Christine
authors.initials: C
authors.lastname: Davies
authors.affiliation: Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Milburn
authors.affiliation: Department of Pediatric Respirology, Children's Hospital of Western Ontario, London, Canada.
authors.forename: April
authors.initials: A
authors.lastname: Price
authors.affiliation: Division of Gastroenterology, Department of Pediatrics The Hospital for Sick Children, Toronto, Canada; Physiology and Experimental Medicine, The Hospital for Sick Children Research Institute, Toronto, Canada.
authors.forename: Tanja
authors.initials: T
authors.lastname: Gonska
authors.affiliation: Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Katherine
authors.initials: K
authors.lastname: Keenan
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada; Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Felix
authors.initials: F
authors.lastname: Ratjen
authors.affiliation: Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada; Department of Pediatrics, Faculty of Medicine, University of Toronto, Toronto, Canada; Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada; Health System Planning & Evaluation Research Program, Institute for Clinical Evaluative Sciences, Toronto, Canada.
authors.forename: Astrid
authors.initials: A
authors.lastname: Guttmann
mesh_terms: D000328:Adult; D001007:Anxiety / Q000209:etiology; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening / Q000523:psychology*; D010290:Parents / Q000523:psychology; D011446:Prospective Studies; D035501:Uncertainty; D055815:Young Adult
keywords: inconclusive screening results; maternal experience; mixed methods