Division of Pediatric Pulmonology, School of Medicine, Marmara University, Istanbul, Turkey.
Division of Pediatric Pulmonology, School of Medicine, Gazi University, Ankara, Turkey.
Pediatr Pulmonol. 2021 Oct;56(10):3223-3231. doi: 10.1002/ppul.25586. Epub 2021 Jul 29.
Despite the availability of cystic fibrosis (CF) screening countrywide, diagnostic delay is still a crucial issue. The objectives of this study were to explore the stages of the NBS process, determine the risk factors associated with diagnostic delay and evaluate parent anxiety and experience throughout the process.
This is a multicenter cross-sectional study. A questionnaire was completed by parents of newborns diagnosed with CF via NBS in 17 centers. Socio-demographic characteristics, parent knowledge and experiences related to NBS, sweat test availability in the region of residence, and time to the definitive CF diagnosis were assessed through this questionnaire. Parents' anxiety levels were evaluated through the State-Trait Anxiety Inventory scales 1 and 2. Delayed diagnosis (DD) was defined as a definite CF diagnosis beyond the 8th week of life. Predictors of delayed CF diagnosis were evaluated by univariate and multivariate analysis.
A total of 220 CF patients diagnosed via NBS were enrolled; 82 (37.3%) babies had DD. Multivariable analysis indicated that residence in the Southeast Anatolia region of Turkey (OR = 10.79, 95% CI = 2.37-49.2) was associated with a higher incidence of DD compared with other regions in Turkey. Of the total, 216 (98.1%) of the caregivers regarded the NBS program as useful and 180 (82%) reported high anxiety levels.
The organization of newborn screening should take into account regional and socio-cultural characteristics to improve the early diagnosis of CF and also reduce the anxiety level of parents.
尽管全国范围内都有囊性纤维化 (CF) 筛查，但诊断延迟仍然是一个关键问题。本研究的目的是探讨新生儿筛查 (NBS) 过程的各个阶段，确定与诊断延迟相关的风险因素，并评估整个过程中父母的焦虑和体验。
这是一项多中心横断面研究。通过 17 个中心对通过 NBS 诊断为 CF 的新生儿的父母进行问卷调查。通过该问卷评估社会人口统计学特征、父母与 NBS 相关的知识和经验、居住地的汗液检测可用性以及明确 CF 诊断的时间。通过状态-特质焦虑量表 1 和 2 评估父母的焦虑水平。将延迟诊断 (DD) 定义为出生后第 8 周后才做出明确的 CF 诊断。通过单变量和多变量分析评估 CF 延迟诊断的预测因素。
共纳入 220 例通过 NBS 诊断的 CF 患者；82 例 (37.3%) 婴儿存在 DD。多变量分析表明，与土耳其其他地区相比，居住在土耳其东南安纳托利亚地区（OR=10.79，95%CI=2.37-49.2）与 DD 的发生率更高相关。在总共 220 名看护者中，216 名（98.1%）认为 NBS 项目有用，180 名（82%）报告了高度焦虑水平。
新生儿筛查的组织应考虑到区域和社会文化特征，以改善 CF 的早期诊断，并降低父母的焦虑水平。
