Cystic Fibrosis (CFTR)

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What is Cystic Fibrosis?

Cystic fibrosis is a severe inherited disease mainly characterized by abnormal mucus secretions causing pulmonary deficiency, chronic bronchitis, and pancreatic insufficiency. The age of onset of the severe form is neonatal or infantile; other variants are associated with mild symptoms or late onset.

Cystic fibrosis follows an autosomal recessive pattern of inheritance. A couple is at risk of having affected offspring only when both members are carriers of the disease. When both members are carriers, the risk of having an affected child is 1 out of every 4 children.


Infografico Carriers


What is the next step if I’m a carrier of Cystic Fibrosis?

If you are found to be a carrier of Cystic Fibrosis, it is important that your partner be tested for the same genetic disorder.


What if my partner is not a carrier?

If your partner’s test for Cystic Fibrosis is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.


What if both me and my partner are carriers of Cystic Fibrosis?

When both parents are carriers of Cystic Fibrosis, the probability of having a child with this disease is 25%.

We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.


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