European Cystic Fibrosis Society

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ECFS Neonatal Screening Working Group

 Kevin Southern

Coordinator

Dr. Kevin Southern

The aims of the ECFS CF Neonatal Screening Working Group are:
• To support the implementation of Newborn Screening for CF across Europe.
• To monitor performance and compare protocols.
• To publish guidelines and consensus reports.
• To continue to determine and update best practice with respect to NBS
• To facilitate research on all infants identified through NBS.

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 the survey have helped guide the development of European evidence based guidelines, and subsequently the further development and implementation of NBS for cystic fibrosis. 

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 (Meeting in Annapolis, May 2011)
• Processing of positive and carrier results (Plans for Spring 2012)
• Processing and management of infants with an equivocal diagnosis (plans for 2012)

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
Available here

European best practice guidelines for cystic fibrosis neonatal screening
Journal of Cystic Fibrosis Volume 8 (2009) 153-173
Available here

Guidelines on the early management of Infants diagnosed with CF following NBS
Journal of Cystic Fibrosis Volume 10 (2010) 323-329

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 (kwsouth@liv.ac.uk).