Carrier Testing for Cystic Fibrosis

Carrier (or genetic) testing not only plays a key role in the diagnosis of cystic fibrosis, but testing also allows parents to find out what their chances are of having a child with CF to help inform important family planning decisions.

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To have cystic fibrosis, a child must inherit one copy of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation from each parent. People who have only one copy of a CFTR gene mutation do not have CF. They are called "CF carriers."

Each time two CF carriers have a child, the chances are:

  • 25 percent (1 in 4) the child will have CF
  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 25 percent (1 in 4) the child will not be a carrier of the gene and will not have CF

People with CF can also pass copies of their CF gene mutations to their children. If someone with CF has a child with a CF carrier, the chances are:

  • 50 percent (1 in 2) the child will be a carrier but will not have CF
  • 50 percent (1 in 2) the child will have CF
This infographic explains how a person gets CF from their parents. When two people who are CF carriers have a child, there is a 25% chance of having a child with CF. When one parent has CF and the other is a CF carrier, there is a 50% chance of having a child with CF.
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Topics
Intro to CF | Research
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