Parent experience with false-positive newborn screening results for cystic fibrosis

Authors

Robin Z. Hayeems, Hospital for Sick Children University of Toronto
Fiona A. Miller, Institute of Health Policy, Management and Evaluation
Carolyn J. Barg, Institute of Health Policy, Management and Evaluation
Yvonne Bombard, Institute of Health Policy, Management and Evaluation
Elizabeth Kerr, Hospital for Sick Children University of Toronto
Karen Tam, Hospital for Sick Children University of Toronto
June C. Carroll, University of Toronto
Beth K. Potter, University of Ottawa
Pranesh Chakraborty, University of Ottawa
Christine Davies, Children's Hospital of Eastern Ontario, Ottawa
Jennifer Milburn, Children's Hospital of Eastern Ontario, Ottawa
Sarah Patton, Institute of Health Policy, Management and Evaluation
Jessica P. Bytautas, Institute of Health Policy, Management and Evaluation
Louise Taylor, Hospital for Sick Children University of Toronto
April Price, Children's Hospital of Western OntarioFollow
Tanja Gonska, Hospital for Sick Children University of Toronto
Katherine Keenan, Hospital for Sick Children University of Toronto
Felix Ratjen, University of Toronto
Astrid Guttmann, Hospital for Sick Children University of Toronto

Document Type

Article

Publication Date

9-1-2016

Journal

Pediatrics

Volume

138

Issue

3

URL with Digital Object Identifier

10.1542/peds.2016-1052

Abstract

BACKGROUND: The risk of psychosocial harm in families of infants with false-positive (FP) newborn bloodspot screening (NBS) results for cystic fibrosis (CF) is a longstanding concern. Whether well designed retrieval and confirmatory testing systems can mitigate risks remains unknown. METHODS: Using a mixed-methods cohort design, we obtained prospective self-report data from mothers of infants with FP CF NBS results 2 to 3 months after confirmatory testing at Ontario's largest follow-up center, and from a randomly selected control sample of mothers of screen negative infants from the same region. Mothers completed a questionnaire assessing experience and psychosocial response. A sample of mothers of FP infants completed qualitative interviews. RESULTS: One hundred thirty-four mothers of FP infants (response rate, 55%) and 411 controls (response rate, 47%) completed questionnaires; 54 mothers of FP infants were interviewed. Selected psychosocial response measures did not detect psychosocial distress in newborns or 1 year later (P > .05). Mothers recalled distress during notification of the positive result and in the follow-up testing period related to fear of chronic illness, but valued the screening system of care in mitigating concerns. CONCLUSIONS: Although immediate distress was reported among mothers of FP infants, selected psychometric tools did not detect these concerns. The NBS center from which mothers were recruited minimizes delay between notification and confirmatory testing and ensures trained professionals are communicating results and facilitating follow-up. These factors may explain the presence of minimal psychosocial burden. The screening system reflected herein may be a model for NBS programs working to minimize FP-related psychosocial harm.