Scotet Virginie, Gutierrez Hector, Farrell Philip M
Inserm, University of Brest, EFS, UMR 1078, GGB, F-29200 Brest, France.
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35233, USA;
Int J Neonatal Screen. 2020 Mar 4;6(1):18. doi: 10.3390/ijns6010018. eCollection 2020 Mar.
Newborn screening (NBS) for cystic fibrosis (CF) has been performed in many countries for as long as four decades and has transformed the routine method for diagnosing this genetic disease and improved the quality and quantity of life for people with this potentially fatal disorder. Each region has typically undertaken CF NBS after analysis of the advantages, costs, and challenges, particularly regarding the relationship of benefits to risks. The very fact that all regions that began screening for CF have continued their programs implies that public health and clinical leaders consider early diagnosis through screening to be Currently, many regions where CF NBS has not yet been introduced are considering options and in some situations negotiating with healthcare authorities as policy and economic factors are being debated. To consider the assigned question (?), we have completed a worldwide analysis of data and factors that should be considered when CF NBS is being contemplated. This article describes the lessons learned from the journey toward universal screening wherever CF is prevalent and an analytical framework for application in those undecided regions. In fact, the lessons learned provide insights about what is necessary to make CF NBS .
对囊性纤维化（CF）进行新生儿筛查（NBS）在许多国家已经开展了长达四十年之久，它改变了这种遗传疾病的常规诊断方法，并改善了患有这种潜在致命疾病的人们的生活质量和寿命。每个地区通常在分析了优势、成本和挑战之后，特别是关于收益与风险的关系，才开展CF NBS。所有开始进行CF筛查的地区都继续实施其项目，这一事实意味着公共卫生和临床领导者认为通过筛查进行早期诊断是……目前，许多尚未引入CF NBS的地区正在考虑各种选择，并且在某些情况下，随着政策和经济因素的讨论，正在与医疗当局进行谈判。为了考虑指定的问题（？），我们对在考虑CF NBS时应考虑的数据和因素进行了全球分析。本文描述了在CF流行地区进行普遍筛查的过程中吸取的经验教训，以及一个适用于那些尚未做出决定的地区的分析框架。事实上，吸取的经验教训为使CF NBS成为……所需的条件提供了见解。
