欧洲国家囊性纤维化新生儿筛查项目的扩展与成效
The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
作者信息
Barben Jürg, Castellani Carlo, Dankert-Roelse Jeannette, Gartner Silvia, Kashirskaya Nataliya, Linnane Barry, Mayell Sarah, Munck Anne, Sands Dorota, Sommerburg Olaf, Pybus Simon, Winters Victoria, Southern Kevin W
机构信息
Cystic Fibrosis Centre, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.
Cystic Fibrosis Centre, Azienda Ospedaliera Verona, Verona, Italy.
出版信息
J Cyst Fibros. 2017 Mar;16(2):207-213. doi: 10.1016/j.jcf.2016.12.012. Epub 2016 Dec 30.
BACKGROUND
Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards.
METHODS
Questionnaires were sent to key workers in each European country.
RESULTS
In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity.
CONCLUSIONS
There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.
背景
囊性纤维化（CF）新生儿筛查是一项成熟的具有国际标准的公共卫生策略。本研究的目的是提供欧洲CF新生儿筛查的最新情况，并对照标准评估其表现。
方法
向欧洲每个国家的关键工作人员发送问卷。
结果
2016年，欧洲有17个国家项目、4个有区域项目的国家以及25个未开展筛查的国家。所有国家项目采用的方案各不相同，免疫反应性胰蛋白酶原-脱氧核糖核酸（IRT-DNA）是最常见的策略。有5个国家未使用DNA分析。此外，项目的流程和结构差异很大。大多数项目在及时性方面达到了欧洲囊性纤维化协会（ECFS）的标准，但在敏感性和特异性方面则不太理想。
结论
欧洲各国CF新生儿筛查项目稳步增加，其策略和结果各不相同，反映了不同的方法。
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