Sunday, December 1, 2013

An update on the ECFS Neonatal Screening Working Group

Specific Aims of the Neonatal Screening Working Group:

  1. To support the implementation of newborn screening (NBS) for CF 
  2. To monitor performance and compare protocols to optimise effectiveness, whilst reducing negative impact 
  3. To encourage enrolment of all infants identified through NBS in clinical trials 
  4. To determine the optimal management of infants with an equivocal diagnosis following newborn screening

Broader objectives: 

  1. To work in an open and inclusive manner
  2. To encourage membership of the ECFS 
  3. 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”

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 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. Anyone that feels such a meeting would help them establish NBS in their country should contact Dr Southern ( or Vicki Winters (