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Cystic Fibrosis Carrier Screening (cont.)

What If I Am a Carrier?

If tests show that you are a carrier of cystic fibrosis (CF), your partner should also be tested. Both parents must be carriers of CF for a child to have the disease. If tests show that your partner is not a carrier of the CF gene, there is a very small chance that you will have a child with CF.

If you and your partner are both carriers of CF, there is a 1-in-4 (25%) chance that your child will have CF.

  • If you are not already pregnant, you may wish to have genetic counseling to understand your risks and options if you decide to have children.
  • If you are already pregnant, you may wish to have further testing (amniocentesis or chorionic villus sampling) to determine whether your baby has CF.

Is Screening Accurate?

The blood test can detect whether a person is a carrier of cystic fibrosis (CF) in about 9 out of 10 CF carriers.2 This rate is not the same among all racial and ethnic groups. There is a small risk that you may be a CF carrier even when the test results are negative.

Should I Be Screened?

The decision to have cystic fibrosis (CF) carrier screening is a personal one. You may wish to be tested if you are concerned that you or your partner might be carriers of CF. This may be more likely if either of you has a family member with the disease.

Some people decide to be tested to help find out their risks if they choose to have children. Among whites, about 2 to 5 out of 100 are carriers of a defective CF gene.3 CF is much less common in other racial and ethnic groups.

Carrier testing is expensive. Another thing that may guide the decision to have testing is whether the cost of the test is covered by your insurance company.

You may decide to have carrier testing for CF if you are already pregnant. The test results may influence your decision about your pregnancy or help you make decisions about the care of your newborn child.

eMedicineHealth Medical Reference from Healthwise

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