The Newborn Screening Experience of Caregivers of Children With Cystic Fibrosis in the United States: A Cross-Sectional Survey.

Abstract

Background: There have been significant improvements in the health of infants and children with cystic fibrosis (CF) since universal newborn screening (NBS) was implemented in the United States (US). However, a significant proportion of infants with CF are not evaluated in a timely manner, and delays disproportionately affect children from minoritized racial/ethnic groups. The aim of this study was to understand experiences of NBS in caregivers of young children with CF in the United States.

Methods: We recruited caregivers of children (0-13 years) with CF through listservs and social media of CF organizations. The survey was administered online in 2023 and included questions about their recollections of their child's NBS and the process of getting a CF diagnosis.

Results: Of 383 caregiver respondents, 43% reported being informed that their child's race or ethnicity was a predictor of the chances of their child having CF. Most reported that after they were notified of a positive NBS test, the initial evaluation for CF was scheduled ≥ 4 days later, 45% reported a delay of ≥ 8 days, and 5% reporting a delay of ≥ 15 days. Most (91%) felt the initial evaluation for CF was thorough, but 35% reported delays in getting information about their child's diagnosis.

Conclusions: Caregivers report delays in evaluation after a positive NBS. A significant proportion reported delays in receiving information about their child's diagnosis or being told that race or ethnicity were related to risk of CF. These findings show the need for education and practice changes in both primary care and CF center settings.