How is Cystic Fibrosis diagnosed?
Cystic Fibrosis is increasingly being diagnosed through screening, but some babies and older children (and even adults) are diagnosed following unexplained illness.
There are three types of screening for Cystic Fibrosis: newborn screening, carrier testing and antenatal testing.

Newborn Testing
Following a campaign by the Cystic Fibrosis Trust, the National Screening Committee recommended that all babies should be screened for Cystic Fibrosis. This has now been implemented across the whole of the UK.
The test is a heel-prick to sample blood as part of the normal Guthrie test carried out on all children. The sooner CF is diagnosed, the sooner appropriate treatment can begin.
For more information please see the UK Newborn Screening Programme Centre.
Carrier Testing
A simple mouthwash test can be taken to tell if you are a carrier. This is important if a relative has CF or is a known carrier. It is very important to have the test if your partner is a known carrier.
Antenatal Testing
This test is used early in pregnancy to tell whether a baby has Cystic Fibrosis. It is usually offered to mothers who are recognised as being at a high risk of having a child with Cystic Fibrosis.
Other tests
Other tests for Cystic Fibrosis are the sweat test (people with CF have more salt in their sweat, which can be detected) or a genetic test, which is a swab taken by gently rubbing the inside of the cheek to check for the faulty CF gene.
If your partner is a carrier and you want to be tested, the genetic interest group has a useful list of services.
If you are thinking about having a baby and want more information on screening, download our Genetics Booklet from the publications library.

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