Before getting pregnant

geneSCREEN™ test – Have you thought about the risk of cystic fibrosis for your baby?

Cystic fibrosis (CF) affects 1 in every 2,500 Australian babies born and it is estimated that 1 in every 25 Caucasian Australians is a carrier. Carriers exhibit no symptoms of the disease.

Although individuals with a family history of CF have a higher chance of being a carrier, over 85% of children born with CF do not have a known family history of the disease.

For family planning purposes you may like to consider screening you and your partner for CF mutations before you decide to get pregnant (preconception testing).

Testing for CF looks for the most common genetic changes (mutations) in the gene that causes CF. People typically want CF carrier screening for family planning purposes. Testing both partners can increase the chance of detecting a CF mutation. Sydney Genetics has two types of screening tests:

1. geneSCREEN™ Standard CF test – delta F508 (only)
   The ‘delta F508’ gene accounts for the majority (~70%) of Caucasian CF cases. You would choose this test if you wanted to check if you had this gene as a parent.
2. geneSCREEN™ Comprehensive CF test – 32-mutation screen
   This comprehensive test screens for the 32 most common CF mutations, which detects about 90% of Caucasian CF mutations. However, in people with other ethnic backgrounds less than 90% of defects are detected. We cannot detect all CF defects as there are more than 1000 known mutations.

The geneSCREEN™ CF tests can be performed using a buccal swab (mouth swab) only, see Sample collection buccal (mouth) swab. A venous blood sample is not necessary.

To request your cystic fibrosis screening kit, complete the form below or call our CF Information line (freecall) on 1800 689 908.

For more information on testing, see Molecular DNA testing.