Cystic Fibrosis (CF) is a genetic disease which results in unusually thick mucus.
This can cause many different problems in the body.
The mucus clogs the tiny airways in the lungs and traps bacteria causing repeated infections and lung damage.Gut
In the gut, the thick mucus prevents normal digestive enzymes to flow into the bowel. This causes incomplete digestion and malabsorption which can affect the growth of the baby and child.
CF is a serious but variable disease which requires regular and continuous treatment.
The severity of the lung disease is the key to the quality and the length of life. -
These days an affected person usually lives well into their 30s and beyond.
Of those who succumb, it is usually due to lung complications.
How do you inherit CF?
CF is an inherited disease. For a child to be born with CF both parents must be carriers of the CF gene mutation.
Carriers have one faulty copy on one chromosome. Carriers do not have CF or any symptoms of the disease.
A person affected with CF has two faulty copies, one on each chromosome 7 received from each parent.
About one in 2500 babies in Australia is born with CF.
One in 25 Caucasians are carriers of a CF gene mutation.
If a person who is a CF carrier has partner who is also a carrier, they have a 1 in 4 chance of having a child with CF.
This kind of inheritance is called "autosomal recessive." It is not related to the sex of the baby.
Over 85% of couples with children affected by CF have no family history of the disease because the gene mutation is silently passed down through generations.
If you do have a family history, then the risk is greater. Please tell your doctor if this is the case.
In the USA, this screening is offered to all couples either pregnant or considering a pregnancy.
In Australia it is screened for routinely after birth on a heel prick of the newborn baby.
But it is possible to find out your risks early in pregnancy.
We think couples will want answers to these important questions:
If both of you are carriers of the ▲ F508 mutation there is a 1 in 4 chance of an affected child.
This knowledge opens up a variety of options, one of which is prenatal diagnosis.
This could mean chorionic villus sampling to test the fetus itself for cystic fibrosis.
These choices would be discussed with you, as a couple, to help you make the decision that suits you both.
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