Almost all children born with CF are born to parents who have no family history. Having no family history does not mean you are not a carrier.
Making the decision to know your CF carrier status can help inform the life choices you and your family make.
CF carrier screening is a genetic test that will help to identify if you have changes to the CF gene. CF screening involves providing a blood or saliva sample and reqiuires a referral from you GP, Obstetrician or Gynaecologist.
There are over a thousand gene changes that cause CF. A typical CF screening request will identify the most common CF gene changes in Australia. However, there is still a small risk that you may be a carrier of a rare CF gene change. If you have a family history of CF, it is important to tell your GP, Obstetrician or Gynaecologist before providing your sample for screening. This will ensure that you are being tested for the most common CF gene changes as well as the specific gene change relevant to your family.
CF carrier screening is only available to those 18 years and over and is the only way to find out if you are a carrier of the CF gene change. The test can be ordered prior to pregnancy or early in a pregnancy by your GP, Obstetrician or a genetic counsellor. For more information on genetic testing click here.
Newborn screening (heel prick test) and CF carrier screening are different. Newborn screening will not identify a child's CF carrier status.
Newborn screening is conducted on all babies in Victoria with parental consent. The simple heel prick test will indicate if a newborn is at high risk of having CF and a positive result means a further test is required. Approximately 99% of all babies screened will not be identified as high risk. Parents are only notified if there is a positive screening, so further tests can be arranged to confirm a diagnosis. For further information on newborn screening visit Victorian Clinical Genetics Service (VCGS)
Making the decision to know your carrier status is a decision only you can make. If you are thinking about being screened then speak with your doctor, Obstetrician or Gynaecologist.
Some parents are interested in finding out the carrier status of their non-CF children. The Human Genetics Society of Australasia guidelines on genetic counselling recommend that minors should only have carrier testing when the results will inform their health management in the immediate future.
Should your results indicate that you are a carrier of the CF gene you can ask for a referral to a genetic counsellor for more information and discuss in detail your options and the potential impacts.
Being a CF carrier does not mean you have CF. Carriers usually display no symptoms of CF.
To have a child with CF, both parents must be a carrier of the CF gene change. If both parents are carriers of the CF gene, then with each pregnancy there is a 25% risk of that child having CF. There is 50% chance your child will be a carrier of the CF gene change but not have CF.
Everyone's reason for wanting or not wanting to know their CF carrier status will be different. What is important is that you feel you have made an informed choice that suits your particular situation and needs.
However, the more open people are about the existence of CF in the family and the availability of testing like CF carrier screening, the more informed people can be when they make their own choices about finding out their CF carrier status when they are ready.
CFV supports individuals having an opportunity to make informed life and reproductive choices as a result of CF carrier screening. To read CFV's position statement on CF carrier screening please click here.
CF carrier screening is not covered by Medicare and there is a cost. Different services have different products and pricing structures. You should expect to pay no less than $150 for CF carrier screening.
CFV are currently lobbying the Victorian Government to better support the Victorian community and make CF carrier screening available through Medicare.
CFV provides financial support towards the cost of CF carrier screening.
If you are over 18 years of age and either your sibling or partner is a member of CFV then CFV will provide $50 towards the cost of CF carrier screening.
If you are interested in finding out more about this service please contact (03) 9686 1811.
Your GP or Obstetrician can request a carrier screen for you. Screening is available to anyone in Victoria as long as you have access to a pathology collection point. Alternatively, if you don't have access to a collection point you may request a saliva swab kit. Be sure to investigate the different screening services offered. For example, at the Victorian Clinical Genetics Service they provide both a carrier screening service for CF only or as part of a Reproductive Carrier Screening service (carrier screening for CF, Fragile X and SMA).
For information on CF carrier screening services click on your respective state or visit NSW Centre for Genetics Education.
The Knowing your Options brochure is a great starting point for helping people think through their options. You may also like to refer to the Information Resource Kit, which provides general and reliable information about carrier screening.If you would like hard copies of any of the resources please contact us.
Genetic counsellors are also available at a number of locations around Melbourne and provide information to you over the phone. The Victorian Clinical Genetics Service (VCGS), Austin Hospital and Monash Health all have genetic counselling services that you can contact by phone to get further information about carrier screening.
The Victorian CF Carrier Screening Community Education Campaign is supported by Balwyn Rotary Club.