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Ask an Expert: Cystic fibrosis carrier screen test

 

Q: My husband and I are both white, and we’ve heard that means we have a higher risk of carrying the gene for cystic fibrosis. We’d like to find out before we start trying to have children. What options do we have?

Answer from Dr. Peter H. R. Roberts, medical director of obstetrics and gynecology at Providence Portland Medical Center: There is a simple screening test that uses a blood or saliva sample to determine whether you or your husband are carriers of the genetic mutation that causes cystic fibrosis (CF). You’re right that the odds of carrying the defective gene are higher in Caucasians. The overall risk of being a carrier is about 1 in 31, but among Caucasians it’s about 1 in 28.

Without the test, there is no way of knowing if you or your partner might be a carrier of the defective CF gene. Even if no one in your family has ever had CF, and you already have children without CF, you or your partner may still be a carrier.

The defective CF gene is recessive, meaning that it must be inherited from both parents in order for a baby to get the disease. So if you or your partner is tested and proves not to be a carrier, then there is no chance your baby will inherit CF. If both you and your partner do carry the defective gene, any child that you conceive has a 25 percent chance of getting the disease.

The CF-carrier screening test is not yet offered to potential parents on a standard basis, so people interested in having the test may need to request information about it from their physician. You will also want to check with your insurance company to determine whether the test is covered.


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January 2002