Questions About CF Testing
Who should consider being tested?
The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend the following individuals have information about cystic fibrosis (CF) carrier screening made available to them:
- All individuals of reproductive age
- Couples planning pregnancies
- Couples who are already pregnant
This easy screening test informs you of your CF carrier status. The results of this test can help determine your chance of having a child with CF.
How can I get tested?
Your test results confirm if you are a carrier of one of the most common CF mutations. The CF carrier screening test is performed on a sample of blood. The results from this screening test are typically available within a week or two.
What if I test negative?
If your results from a CF carrier screening test are negative, your chance of being a carrier and having a child affected by CF are extremely low.1
What if I test positive?
If your results from the CF carrier screening test are positive, you are a CF carrier. Since both parents must be CF carriers for their child to have CF, the other parent should also be tested.
If the other parent tests negative, your child may inherit your defective CF gene and be a carrier. However, the chance of your child having CF and being affected by the disease is extremely low. If both parents test positive, the possible results are shown below:
If you are already pregnant, and both parents are carriers, then you have the option to choose additional prenatal diagnostic testing to determine if your child will have CF.
The good news is that only a small percentage of couples will both be CF carriers, and in this situation there is only a 25% chance with each pregnancy that the baby will have CF. Carrier and newborn screening programs can aid in early diagnosis of CF and, when combined with current advances in medical treatment, children with CF are living longer, healthier, and happier lives.
Is testing required?
No, CF carrier screening is optional. Please contact your healthcare provider or genetic counselor for any additional information.
What is a genetic counselor?
Genetic counselors work as members of a health care team, providing information and support to families who may be at risk for a variety of inherited conditions or who have members with genetic disorders. They identify families at risk, interpret information about the disorder, and review available options with the family.
Genetic counselors also serve as patient advocates and refer individuals and families to community or state support services. Your healthcare provider, insurance company, or local hospital can refer you to a genetic counselor.
1The test results from CF carrier screening DNA tests are extremely accurate. However, because not all rare mutations are known and/or tested for, in certain rare circumstances, a mutation in the CF gene may not be detected by this test. You may still be a CF carrier although your test results are negative.