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Which patients should be reported

Which patients should be reported

Who should be recorded in the ECFSPR? Confirmed cystic fibrosis CFSPID: cf screenin positive, inconclusive diagnosis

The ECFSPR collects data about consenting people with a confirmed diagnosis of Cystic Fibrosis and people who have been designated CFSPID (Cystic Fibrosis – Screening Positive Inconclusive Diagnosis)

Confirmed cystic fibrosis

The ECFS Patient Registry is a longitudinal study. It recruits all the prevalent confirmed cystic fibrosis
cases on 1st January 2008 and all the subsequent incident cases.

 

Inclusion Criteria – Confirmed CF diagnosis

Only individuals who fulfil the diagnostic criteria below should be included in the registry as having a confirmed CF diagnosis:

  • Two sweat tests >60 mmolL−1
  • One sweat test >60 mmolL−1 chloride AND two identified disease-causing CFTR gene variants from DNA Analysis/Genotyping.

OR

If the sweat test value is ≤ 60 mmolL−1, then at least 2 of these must be fulfilled:

  • two identified disease-causing CFTR gene variants from DNA Analysis/Genotyping.
  • Clinical Presentation - typical features of CF.
  • Transepithelial (Nasal) Potential Difference - study consistent with a diagnosis of CF.

 

References:

  • Gibson LE, Cook RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23:545-49
  • Farrell PM, Koscik RE. Sweat chloride concentrations in infants homozygous or heterozygous for F508del cystic fibrosis. Pediatrics 1996;97:524-8
  • De Boeck et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006; 61(7):627-35.

 

Reversal of Diagnosis and/or conversion to CFTR-RD, or CF carrier / healthy

This should be indicated in the data and communicated by email to: servicedesk@ecfregistry.eu.

and no further data should be included in the ECFSPR for the individual.

Reasons for reversal of diagnosis:

  • DNA Analysis - unable to identify two diseasecausing CFTR gene variants.
  • Transepithelial (Nasal) Potential Difference - study not consistent with a diagnosis of CF.
  • Repeat normal sweat testing - confirm with clinical team.

CFSPID: cf screenin positive, inconclusive diagnosis

From January 2026, the ECFSPR will collect data about consenting people who have been designated CFSPID, including conversion to CF or a CFTR-RD* or to CF carrier / healthy.  Data about CFTR-RDs or healthy carriers will not be collected, other than the conversion status.

 

Inclusion Criteria - CFSPID Designation

  • Normal sweat chloride value (<30mmolL−1) and two CFTRgene variants, at least one of which has unclear phenotypic consequence.

OR

  • Intermediate sweat chloride value (30–59mmolL−1) and one or no CFTR gene

 

*CFTR-RD: Cystic Fibrosis Transmembrane Regulator Related Disorder

 

An algorithm for the designation of infants, following the positive newborn screening (NBS) result.

CF: Cystic fibrosis, CFTR: CF transmembrane conductance regulator (gene), CRMS: CFTR-related metabolic syndrome, CFSPID: CF screen-positive, inconclusive diagnosis

References: 

  • Munck, A. et al. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. Journal of Cystic Fibrosis, Volume 14, Issue 6, 706 - 713
  • Munck A. Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis. International Journal of Neonatal Screening. 2020; 6(1):19. https://doi.org/10.3390/ijns6010019