Aims of the ECFS Neonatal Screening Working Group (NSWG)

1.    To support the implementation of newborn screening (NBS) for CF in Europe

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 inconclusive diagnosis following newborn screening

The ECFS Neonatal Screening Working Group (NSWG) was established in 2004 by Prof. Carlo Castellani and a few years later coordinated by Prof. Kevin Southern. In a first step, a survey was conducted to obtain a comprehensive picture of the situation in Europe and to identify areas in need of standardization. The results of this original survey helped to guide the development of European evidence-based guidelines and subsequently the further development and implementation of NBS for CF in Europe. 
In 2008, the NSWG published guidelines for NBS and recognised the wide variance in protocols. As a consequence, the NSWG suggested that given the geographic, ethnic, and health economic variations between countries, complete harmonisation of protocols was not appropriate, and every country had to evaluate and optimise their approach to NBS for CF in light of the health structure and population screened. The Working Group continues to examine these differences with the objective being to find the best possible protocol for each region.
Four main areas of debate remain:

  • Optimal IRT cut-offs
  • Optimal algorithm in the laboratory for each region
  • Processing of positive and carrier results
  • Processing and management of infants with an equivocal diagnosis, now called CF screened positive, inconclusive diagnosis (CFSPID)

A second survey was performed in 2016 to provide an update on CF NBS programmes in Europe, to describe and discuss differences between protocols, to identify barriers to establishing national NBS programmes, and to compare the performance with the published ECFS Standards of Care Best Practice Guideline 2014. In 2018, the objectives of the Working Group were extended:


Additional objectives for the NSWG from 2018 onward

5.    To determine key outcome measures to evaluate the performance of CF NBS

6.    To establish guidance and quality ranking on the collection of NBS outcome data

7.    To assess knowledge of CFSPID in Europe

8.    To provide resources to improve the evaluation and management of infants with CFSPID

9.    To work with the ECFS Registry group to clarify definition and recording of CFSPID outcomes

10.   Improving the processing of positive newborn screening results


Broader objectives

1.    To continue to work in an open and inclusive manner
2.    To encourage membership of the ECFS
3.    To encourage participation from countries outside the EU

At the European CF Conference in Liverpool in June 2019, the coordination for the ECFS NSWG was handed over from Prof Kevin Southern to Prof Jürg Barben.

The NSWG holds its annual meeting prior to the European CF Conference – this meeting is free to all Working Group members. If you wish to be added to the emailing list for the event please contact juerg.barben@kispisg.ch