Specific aims of the ECFS CF Neonatal Screening Working Group
- To support the implementation of Newborn Screening (NBS) for CF
- To monitor performance and compare protocols to optimise effectiveness, whilst reducing negative impact
- To encourage enrolment of all infants identified through NBS in clinical trials
- To determine the optimal management of infants with an equivolcal diagnosis following newborn screening.
- To work in an open and inclusive manner
- To encourage membership of the ECFS
- To encourage participation from countries outside the EU
The Working Group was implemented in 2004. As a first step, a questionnaire was circulated to European CF neonatal screening services in order to achieve a comprehensive picture of the situation in Europe, and to detect fields in need of standardisation. The findings of this original survey have helped guide the development of European evidence based guidelines and subsequently the further development and implementation of NBS for cystic fibrosis. There has since been the new ECFS NSWG Survey for 2013 - findings to be published soon.
While the expansion of NBS across the globe has been rapid, there is considerable variance in the protocols employed ranging from IRT-IRT to IRT with extended gene analysis. The Working Group continues to examine these differences with the objective being to find the best possible protocol for each region.
Three main areas of debate:
- IRT cut-offs
- Processing of positive and carrier results
- Processing and management of infants with an equivocal diagnosis (November 2013 - currently in the middle of the project "Guidelines on the Management of Infants with an Equivocal Diagnosis following newborn screening for Cystic Fibrosis")
Since 2004, the Working Group has published the following articles in the Journal of Cystic Fibrosis.
A survey of NBS for CF in Europe
Journal of Cystic Fibrosis Volume 6 (2007) 57-65
A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
Journal of Cystic Fibrosis Volume 8 (2009) 71-78
European best practice guidelines for cystic fibrosis neonatal screening
Journal of Cystic Fibrosis Volume 8 (2009) 153-173
Guidelines on the early management of Infants diagnosed with CF following NBS
Journal of Cystic Fibrosis Volume 10 (2010) 323-329
The NSWG holds its Annual meeting prior to the ECFC – this meeting is free to all Working Group members. If you wish to be added to the emailing list for the event please contact firstname.lastname@example.org.
In addition, the Group has organised workshops in Valencia (2010) and Hamburg (2011), to support our colleagues in Spain and Germany in their efforts to establish national NBS programmes. Such meetings provide an excellent forum and the necessary focus that is needed to overcome the hurdles that obstruct the implementation of NBS.