General information, not an individual diagnosis. Ask a healthcare professional if you are unsure about your situation.
Newborn cystic fibrosis screening begins with a heel-prick blood sample, taken on the third day of life according to Ameli. It measures, among other things, immunoreactive trypsin, or IRT.
If IRT is high, a search for variants in the CFTR gene may be requested with the parents’ consent. A high value signals a need to continue screening; it does not by itself diagnose cystic fibrosis.
If one or two gene variants are found, Ameli says a sweat test is performed. After a positive screening result, a consultation with a specialist paediatrician is arranged.
If no variant is found or the parents decline genetic testing, the initially high IRT measurement is repeated three weeks later. If it remains high, a sweat test is performed.
The sweat test and genetic analysis provide different information that contributes to diagnosis. The team explains the results and whether further tests are needed.
To prepare for the consultation, ask which result prompted contact, which test is proposed next and when it will be explained. Note the name and contact details of the professional to reach with questions.
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