作者
Carlo Castellani, Kevin W Southern, Keith Brownlee, Jeannette Dankert Roelse, Alistair Duff, Michael Farrell, Anil Mehta, Anne Munck, Rodney Pollitt, Isabelle Sermet-Gaudelus, Bridget Wilcken, Manfred Ballmann, Carlo Corbetta, Isabelle de Monestrol, Philip Farrell, Maria Feilcke, Claude Férec, Silvia Gartner, Kevin Gaskin, Jutta Hammermann, Nataliya Kashirskaya, Gerard Loeber, Milan Macek Jr, Gita Mehta, Andreas Reiman, Paolo Rizzotti, Alec Sammon, Dorota Sands, Alan Smyth, Olaf Sommerburg, Toni Torresani, Georges Travert, Annette Vernooij, Stuart Elborn
发表日期
2009/5/1
来源
Journal of Cystic Fibrosis
卷号
8
期号
3
页码范围
153-173
出版商
Elsevier
简介
There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold …
引用总数
学术搜索中的文章
C Castellani, KW Southern, K Brownlee, JD Roelse… - Journal of Cystic Fibrosis, 2009