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Cystic Fibrosis Carrier Testing:

What is the purpose of cystic fibrosis carrier testing?
The purpose of CF carrier testing is to see if a couple is at increased risk for giving birth to a child who will have CF. Cystic fibrosis carrier testing is a laboratory test done on a sample of blood or saliva.

Could I be a carrier of cystic fibrosis?
Yes. You could be a carrier of CF even if no one in your family has CF and even if you already have children without CF.

Who should consider having carrier testing?

Anyone who has a relative with CF or whose reproductive partner has a family history of CF

Any woman who is having prenatal diagnosis for other reasons (such as maternal age or for a risk for another genetic disorder)

Anyone who is contemplating carrier screening for other genetic conditions

Any European-Jewish woman or her European-Jewish partner

Any Caucasian woman and/or her Caucasian partner

If my test result is normal, could I still be a carrier?
Yes. There are some mutations in the CF gene that the current test cannot find.

However, these unknown CF mutations are rare.

If the test shows I am a carrier, what should I do?
If the test shows that you are a carrier, the next step is to test the baby's father. Both parents must be carriers for the baby to have CF.

What if both my partner and I are cystic fibrosis carriers?
If two people who are both carriers have a child, that child may have CF. When two carriers have a child together, there is a 1-in-4 (25 percent) chance with each pregnancy that the child will have CF.

How do I decide whether or not to have carrier testing?
After learning about CF carrier testing, some people decide to have testing, and others decide against it.

Possible reasons to be tested:

If CF seems like a very serious disorder to you

If the chance of being a CF carrier seems high to you; this may be especially likely if a member of your family or your partner's family has CF or is a known carrier

If you and the baby's father would consider amniocentesis or CVS

Because test results are usually reassuring

Possible reasons not to be tested:

If CF does not seem like a very serious disorder to you

If the chance of being a CF carrier seems low to you; this may be especially likely if you are Asian American or African American

If you and the baby's father would never consider having amniocentesis or CVS

Because the test is not perfect and will not identify all carriers

 

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