Diagnosis and Screening

Newborn Screening

In Australia all babies are screened at birth for Cystic Fibrosis.  A small blood sample is taken about three days after birth and if this test proves to be positive genetic testing of the CFTR gene will be done.  Finally a sweat test will be carried out to measure the amount of salt in the sweat and it is with this test that a diagnosis will be made.

Please note that while newborn testing picks up almost all babies with CF (about 95%) the test will miss some.

Prenatal testing

Special tests can be carried out during pregnancy to determine if the baby will have CF.  They are available if you already have a child with CF or if you or your partner are  genetic carriers for CF.

You need to discuss these tests in more detail with your doctor.

Carrier testing

Genetic carrier testing is done for people who don’t have CF to find out if they have a mutation in one of their CFTR gene copies.  Testing is usually done with a sample of saliva or blood.  This is most relevant for:

  • close blood relatives of a person with CF
  • the partner of a person already known to be a carrier of a CFTR mutation

If you are considering genetic carrier testing you are advised to consult a genetic counsellor who can provide advice and arrange testing.  Your local CF organisation should have contact details for the counsellors.

For more information on carrier screening click here