Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis
Robin Z Hayeems1, Fiona A Miller2, Carolyn J Barg2
1Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, Toronto, Canada; Institute of Health Policy, Management and Evaluation, robin.hayeems@sickkids.ca.
Insights
False-positive newborn screening for cystic fibrosis can cause temporary maternal distress, but well-managed follow-up systems minimize long-term psychosocial harm in families.
Area of Science:
- Neonatal screening
- Public health
- Genetics
Background:
- False-positive (FP) results in newborn bloodspot screening (NBS) for cystic fibrosis (CF) raise concerns about potential psychosocial harm to families.
- The effectiveness of well-designed retrieval and confirmatory testing systems in mitigating these risks is not well understood.
Purpose of the Study:
- To evaluate the psychosocial impact on mothers of infants receiving false-positive NBS results for CF.
- To assess the role of a structured follow-up care system in mitigating potential distress.
Main Methods:
- A mixed-methods cohort design was employed, collecting prospective self-report data from mothers of infants with FP CF NBS results and a control group.
- Questionnaires assessed maternal experience and psychosocial response 2-3 months post-confirmatory testing.
- Qualitative interviews were conducted with a subset of mothers experiencing FP results.
Main Results:
- While mothers recalled distress during the notification and testing phases, specific psychometric tools did not detect significant psychosocial distress at 2-3 months or 1 year.
- Mothers reported fear of chronic illness but valued the screening system for addressing concerns.
Conclusions:
- Immediate distress was reported, but robust psychometric measures did not indicate lasting psychosocial burden.
- A streamlined NBS system with rapid confirmatory testing and professional communication may effectively minimize FP-related psychosocial harm.
- This screening and follow-up model can serve as a benchmark for other NBS programs.
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.
