EUROPEAN CYSTIC FIBROSIS SOCIETY (ECFS)
 

A European Survey

In order to achieve a comprehensive picture of the situation in Europe, and to detect fields in need of standardization, a questionnaire was circulated to European CF neonatal screening services.

• The questionnaire was divided in various parts:

• screening protocol,

• sample collection (who collects and how, collection day),

• immunoreactive trypsinogen (levels, centiles, when tested, how tested), genetic analysis (what mutations, techniques, informed consent issues),

• sweat test (suggested age, positive and borderline values, techniques),

• diagnosis (diagnostic criteria, communication to the family),

• follow-up (clinical protocols, segregation issues),

• data storing (informatic tools, card storage),

• epidemiology (numerosity of screened newborns,

• CFs, carriers, false positives, false negatives).

Twenty-six questionnaires were completed:

• 7 from the UK,

• 1 (nationwide) from France,

• 12 from Italy,

• 3 from Spain,

• 1 (nationwide) from Austria,

• 1 from Poland

• 1 from the Czech republic.

The programmes varied in number of infants screened and in the protocols employed, ranging from sweat testing all infants with a raised first IRT to protocols with up to four tiers of testing. 

• Three different assays for IRT were used; in the majority (24) this was a commercially available kit (Delfiaä). 

• A number of programmes employed a second IRT measurement in the 4^th week of life (as the IRT is more specific at this point). 

• Nineteen programmes used DNA analysis for common CFTR mutations on samples with a raised first IRT. 

• Three programmes used a second IRT measurement on infants with just one recognized mutation to reduce the number of infants referred for sweat testing. 

 Referral to clinical services was prompt and diagnosis was confirmed by sweat testing, even in infants with two recognized mutations in most programmes. 

Subsequent clinical pathways were less uniform.  Multi-variate analysis demonstrated a relationship between the age of diagnosis and the timing of the first IRT.  More sweat tests were undertaken if the first IRT was earlier and the diagnosis was later.

Annually these programmes screen approximately 1,600,000 newborns for CF and over 400 affected infants are recognized. The findings of this survey will guide the development of European evidence based guidelines and may help new regions or nations in the development and implementation of NBS for cystic fibrosis.  

Journal of Cystic Fibrosis. 2006 May 16; [Epub ahead of print]