What do the results mean?

If the results show you are a carrier of CF:
If your test shows that you have one copy of the gene change, you are a carrier. You will be informed of your result by your doctor or a genetic counsellor and offered genetic counselling. You are only at risk of having a child with CF if your partner is also a carrier, so it is important that their carrier status is also determined. As you inherited the alteration in your CFTR gene from one of your parents, your siblings and cousins have an increased risk of being a carrier, and should consider having testing. Your siblings and cousins can call Genetic Health Services on 83416201 to arrange testing to clarify their carrier status for CF.

If the results show you do not carry any of the common CF alterations:
If your results come back showing you are not a carrier, this means you do not have any of the common gene changes we test for, so your risk of being a carrier and/ or having an affected child is greatly reduced BUT no test can absolutely rule out the possibility that you have an alteration in one of your CFTR genes that we do not test for.

If the results show that you and your partner are carriers of CF:
If you and your partner are both found to be carriers, you have a 1 in 4 (25%) chance of having a child affected with CF in each pregnancy. If you are both carriers you will be offered genetic counselling, support and the opportunity to see a cystic fibrosis specialist. Following counselling you may choose to have tests to identify whether your baby has CF. If the tests diagnose CF you have a choice whether to continue or terminate the pregnancy. If you are identified as being carriers prior to a pregnancy, then you also have the option of Preimplantation genetic diagnosis (PGD) using in vitro fertilisation (IVF).