Heffernan Marie E, Barrera Leo, Jones MicKayla, Hayes Ashley, Roldan Marisol, Wright Michele, McGarry Meghan E, Ross Lainie F, McColley Susanna A
Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Mary Ann & J. Milburn Smith Child Health Outcomes, Research, and Evaluation Center, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Pediatr Pulmonol. 2025 May;60(5):e71110. doi: 10.1002/ppul.71110.
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.
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.
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.
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.
自美国实施新生儿普遍筛查（NBS）以来，囊性纤维化（CF）患儿的健康状况有了显著改善。然而，相当一部分CF患儿没有得到及时评估，而延误对少数族裔儿童的影响尤为严重。本研究的目的是了解美国CF幼儿照料者的NBS经历。
我们通过CF组织的邮件列表和社交媒体招募了0至13岁CF患儿的照料者。该调查于2023年在线进行，包括关于他们对孩子NBS的回忆以及获得CF诊断过程的问题。
在383名照料者受访者中，43%报告被告知他们孩子的种族或族裔是孩子患CF几率的一个预测因素。大多数人报告说，在他们被告知NBS检测呈阳性后，CF的初步评估安排在4天及以后，45%报告延迟8天及以上，5%报告延迟15天及以上。大多数人（91%）认为CF的初步评估很全面，但35%报告在获取孩子诊断信息方面存在延迟。
照料者报告在NBS呈阳性后评估存在延迟。相当一部分人报告在获取孩子诊断信息或被告知种族或族裔与CF风险有关方面存在延迟。这些发现表明，初级保健和CF中心环境都需要进行教育和实践变革。
