Lives unaffected by cystic fibrosis

CF Carrier Screening

CF Carrier Screening

94% of children born with CF were born into families with no known family history.

To have a child with CF, both parents must be a carrier of the gene changes that cause CF. If both parents are carriers of the CF gene, then with each pregnancy there is a 25% risk of that child having CF. 

Being a CF carrier does not mean you have CF. Carriers usually display no symptoms of CF. 

CF carrier screening services are available in Australia to help you find out whether you or your partner carry the CF gene change. 

 

What is CF and CF carrier screening?

"Cystic fibrosis or CF is the most common life-threatening genetic disorder affecting young Australians today" explains Dr Sean Fabri. Learn more about CF and CF carrier screening as he talks about the science, its implications and the options available for people to find out if they are carriers of CF gene change.

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 requires a referral from your 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 visit Victorian Clinical Genetic Service.

Could you be a carrier?

An estimated 1 in 25 Australians carry the gene changes that can cause CF. Most whom are unaware. 

Making the decision to know your CF carrier status is a choice only you can make. CF carrier screening can be accessed to help inform you of all of your reproductive options. 

The earlier you make a decision about knowing your CF carrier status the more options you will have. Discuss your CF carrier screening options with your GP, Obstetrician or a genetic counsellor.

Is it better to know my CF carrier status?

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.

CFCC supports individuals having an opportunity to make informed life and reproductive choices as a result of CF carrier screening.

Read CFCC's position statement on CF carrier screening

When should someone have CF carrier screening?

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 children who do not have CF. 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. Find out more on our fact sheet

Can newborn screening detect CF carrier status?

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.

What if my results show I am a carrier?

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
  • a 50% chance your child will be a carrier of the CF gene change but not have CF.
     

Is CF carrier screening covered by Medicare?

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. CFCC are currently lobbying the Victorian Government to better support the Victorian community and make CF carrier screening available through Medicare.

Where can I go for CF carrier screening?

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 in your area visit:

Personal reflections of CF carrier screening

Making the decision to know your CF carrier status is personal choice, below you can read why a number of Victorian's decided it was important to them to have CF carrier screening. 

We had no known family history

Renae Prendergast and her family know first handedly what it is to live and breath CF. Through her daughter's diagnosis, Renae encourages other's to consider CF carrier screening ... 

Prendergast_family.jpg"Prior to my daughter, Kari being diagnosed with CF through Newborn Screening my family had no known history of CF on either my mother or father's side. My husband's cousin has CF however, his family were never made aware of the implications that this could pose for them when starting their own families or being aware of their carrier status. Due to having little contact with his cousin I too was unaware of the implications and therefore had little knowledge of CF.

We both decided to be screened for CF after our daughter was born with CF in 2008 and to confirm the genotype. CF carrier screening should be offered to all couples considering having children not just to couples where there are known cases of it within the family. The screening also needs to be affordable too as prevention is better than cure.

So couples can make informed choices about their pregnancy , I would highly reccomend they be screened. Especially if there is a high probability that they could have a child with CF. from our experiences living with CF in the immediate family, I wouldn't want any parent to face what we do daily. I feel more than blessed to have our gorgeous girl in our lives and she constantly teaches me things about myself, however, CF is a relentless, unforgiving, life shortening, debilitating, and stressful chronic illness. It's an emotional roller coaster. As a parent you do not want to see your child battle and fight this horrible disease."

Taking control of my future

Rebecca Jansman was curious about her carrier status after her beloved niece was diagnosed with CF. With awareness, came the understanding that CF does not change the decision to have children, it just makes it clearer...

"My story with CF started almost 12 years ago when my niece Olivia was diagnosed just before her third birthday. I remember getting the phone call to say Olivia had been diagnosed with CF. I had no idea what it was as I had never heard about it before, there had been no one on my side of the family having it. I was confused going into the hospital after hearing, I remember Olivia's mum, Annette, crying and everyone being so upset, I still had no idea what was going on or what this illness meant for my beautiful niece. After learning of the battle Olivia and her family had in front of them, I started to wonder if I was a carrier of CF. 

I was only 20 at the time so I wasn't thinking of having children just yet. My partner Ben (who I am now married too and we have two wonderful daughters together) and I were put into contact with a genetics consultant at the Monash hospital who organised for us to come in and talk about what would it mean if Ben and I were carriers. We then had blood tests and a few weeks later we each got a letter in the mail stating that I was a carrier and Ben wasn't.

Olivia is a big part of our life, she is the strongest person I know and I admire her in every way possible. She is also the best cousin to our girls, they look up to and adore her in so many ways. I think carrier screening should be offered when you first hear about having a family member with CF. It just so happens that my brother and I are both carriers of the CF gene. I would recommend to get carrier screening done for you and your partner, you never know if you are a carrier or not, if my husband Ben did have the gene too it wouldn't have made us not want to have children, it would have made us more aware of what may lie ahead of us in the future." 

Dare to make a change

Jacinta Hudson lost her sister, Skye, to CF as a young child. Her family have since been active members of the CF community in Victoria. CFV spoke to her about her decision to be tested to find out her CF carrier status. Here's what she had to say...

"Before my sister, Skye, was born, Mum and Dad had no idea that CF existed, let alone what it was. They were shocked to find out later that distant relatives (on both sides) had lost children to CF, but back then they barely knew what CF was, I’m not even sure if it had a name back then…

Even though I was very young, 2-years-old, when we lost Skye I grew up within the CFV community. Mum and Dad were active members, suggesting that more needed to be done for the families. We took on lead roles in the Christmas parties and Memorial Services each year. This meant that I grew up very aware of the seriousness of CF and longed for the day I could find out if I was a carrier- as I didn’t want to pass on the gene to my children one day.

So when I turned 18 (or sometime shortly after), I headed straight to the GP. I walked in, sat down and said “I want to be tested to see if I’m a carrier of CF.” It was quick and easy and I had my results in a couple of weeks. I scared the living daylights out of my family when I got a mysterious phone call and burst into tears… I wasn’t a carrier. I had no idea how much it meant to me until that moment. 

I’m a big advocate of getting screened, and will tell a complete stranger to get tested (if we’re on the topic). It’s not a death sentence if you’re a carrier. But it could carry a great deal of importance in decision making and planning in the future, which could save someone a great deal of heartache later on. I think when I was tested you had to be 18 to get it done. While this was ok for me, I do wonder if it should be earlier (maybe when you are 16). But more importantly, it needs to be talked about earlier. It needs to be in the back of people’s minds - like it was in mine. Awareness is definitely key here."

Fighting to be screened

Toni didn't entirely understand what being a carrier of the CF gene would mean for her and her family. However, with a known family history what she did know was that she and her partner needed to be screened ... 

“My son is 9 years old, he doesn’t really understand much about be a carrier of CF at the moment and I am still learning myself. Our family are carriers of Delta-F508, the most common CF gene change.

My two cousins, Brett and Scott died as a result of having CF when they were 15. Our second cousin also has CF. It came through the Perry side of the family and we have a gene tree for our family at Monash Medical Centre. My aunty, before she became a Perry did not know she was a carrier of the DF508, my uncle Ivan Perry was too. All I really understand, is from what was explained to me 11 years ago... I needed to be tested for CF to see if I was a carrier and my partner also had to be tested in case I fell pregnant and the potential for our child to be born with CF. For me, it would have been very traumatic knowing that they would not get the enjoyment out of life like everyone should.

In 2005, I would have to pay $500 for the blood, mouth swap test. However, when I gave my GP information about my family history and the Perry family tree it was free. My partner came back all clear and I came back as a positive carrier. Luck was on my side. It was hectic trying to get this blood test as my GP was adamant that it did not need to be done, it was very costly and they won't just do it for anyone he explained. I very well understood quite clear.

I encourage people to get screened. Once you have all the Information about your family history and CF it’s a walk in the park. Once my son was born and had his heel prick test done (it took less than 3 days for the results to come back), you guessed it he is a carrier of Delta F508. My daughter was born in 2008 and her heel prick results were negative...

My dad is a carrier and it passed my brother (who is older than me). When I found out I was a carrier I felt a little bit better but it saddens me that many families out there are in familiar situations with CF like mine in their families and it’s too late before they can do anything.

There needs to be a lot more awareness for CF as I didn't realise how common it was until a young girl at my son’s school suffered from CF and every May she would raise awareness in the school to let people know she is just like everyone else on the outside but it’s the things people can't see and feel what goes on, on the inside.”

Where can I find more information?

Fact sheets

Genetic counsellors

Genetic counsellors are also available at a number of locations around Melbourne and provide information to you over the phone. The organisations below all have genetic counselling services that you can contact by phone to get further information about carrier screening: