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Cystic fibrosis screening - are you one of the 1 in 25?

Photo: Are you one of the 1 in 25 people who carries the cystic fibrosis gene?
Cystic Fibrosis Community Care Victoria has relaunched its carrier screening community education project with an advertising campaign that asks, “Are you one of the 1 in 25 people who carries the cystic fibrosis gene?”  The campaign uses a red helium balloon to symbolise the recessive gene that causes cystic fibrosis.

This campaign aims to raise awareness of cystic fibrosis through print advertising on the back of public toilet doors in selected metropolitan and regional shopping centres. These advertisements will run from May to July. In addition, there are postcards that are available for distribution

Cystic fibrosis (CF) is the most common inherited life-shortening condition affecting Australian children.  CF primarily affects the lungs and gastrointestinal systems. Children with CF develop an abnormal amount of thick mucus within the lungs and intestine. In the lungs, this mucus traps bacteria leading to recurrent infections. Within the intestine, the mucus impairs digestion of food. Infants, children and adults with CF require daily chest physiotherapy to clear the mucus from the lungs and enzyme replacement medication to aid in food digestion. Individuals with CF have a shortened life span with lung failure being the major cause of death.
CF is inherited in an autosomal recessive manner, meaning that for a child to have CF, both parents need to be carriers of a faulty gene for CF. Although 1 in 25 Australians carries a faulty gene for CF, the vast majority are not aware of their carrier status. Importantly, most children with CF (94%) have no family history of the condition.

Carrier screening provides women and their partners with the option of being tested for the gene changes that cause CF.  The Human Genetics Society of Australasia recommends that couples planning or in the early stages of pregnancy be made aware of the availability of CF carrier screening. Ideally, screening should be offered prior to pregnancy because this allows a broader range of reproductive options to be offered, including the use of IVF and preimplantation genetic diagnosis (PGD).

For couples with no family history of CF, carrier screening usually commences by testing just one partner (most commonly the female). If that partner is not identified to be a carrier of CF, no further testing is necessary.  However if the partner screened first is found to be a CF carrier, carrier screening is then offered to the other partner.

In Victoria, CF carrier screening has been available for more than ten years, and the number of couples screened has increased steadily over this time. More recently, extended carrier screening tests have become available. In addition to testing for CF, extended carrier screening tests also test for carrier status of other genetic conditions such as Fragile X syndrome and spinal muscular atrophy (SMA). 

CEO of Cystic Fibrosis Community Care Victoria, Ms Karin Knoester, is proud of this campaign and the awareness it is raising of cystic fibrosis and carrier screening. “Carrier screening is the only way to find out if you carry the cystic fibrosis gene prior to pregnancy. Carriers do not have cystic fibrosis or any related symptoms of the condition”.

“Making the decision to know your carrier status is only a decision that you can make. We want people to know that the option is there”.

Personal story
Rebecca Jansman was curious about her carrier status after her beloved niece was diagnosed with CF

My niece Olivia was diagnosed with cystic fibrosis (CF) just before her third birthday.  I had no idea what it was and I had never heard of anyone in our extended family having it.

After learning what lay ahead for Olivia and her family, I started to wonder if I was a carrier of the CF gene. I was only 20 at the time and my partner and I weren’t really thinking of having children. But we decided that it was important to find out before we did.

We both had the genetic test and found out I was a carrier. Thankfully my partner wasn’t. If we hadn’t screened, then we wouldn’t have known if we were at risk of having a child with CF or not.


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