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What Does it Mean to be a Carrier?


The newborn screening results showed that my baby has one CF gene mutation, but the sweat test was normal. What does this mean for my baby?

If your baby’s newborn screening (NBS) results found one CF gene mutation and the sweat test was negative (normal), your baby does NOT have CF. These test results meant that your baby is a CF carrier. A CF carrier is healthy and does not have the disease.

When your child is older, you can explain what it means to be a CF carrier. It will be more important for your child to know that he or she could pass the CF gene mutation to his or her future children. His or her partner might want to get CF carrier testing if and when they plan to have children.

CF gene mutations are shared in families. Because of this, you should tell your blood relatives that they could be carriers of a CF gene mutation, so that they and their partners can decide if they would like to be tested.

The CF Foundation’s fact sheet “My Baby Is a CF Carrier” explains what it means to be a carrier of a CF gene mutation.

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What does it mean for my child’s future if he or she is a CF carrier?

We encourage you to talk about with your child when he or she is old enough to understand genetics. Then, you can explain what it means to be a CF carrier.

You and/or your child could discuss meeting with your child’s doctor, a genetic counselor or genetics nurse specialist when you are ready for that conversation.

Genetic progress is moving very quidkly. Much more will be known about CF genetics when your child is ready to have children.

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What does it mean for us parents if the newborn screening results show that our baby is a carrier of CF?


If you both are carriers there is a 1 in 4 chance with each and every pregnancy that your next child will have cystic fibrosis.

Learn more about CF genetics by watching "CF Genetic Counseling: Beyond 1 in 4."

If your baby was found to have one CF gene mutation, it means that either you or your partner is definitely a CF carrier. However, it is also possible that both of you are carriers, even if your newborn baby does not have CF. If you both are carriers there is a one in four chance with each and every pregnancy that your next child will have cystic fibrosis.

DNA or genetic testing can help you learn more about whether one or both of you are CF carriers. Genetic counseling can help you understand what it means to be a CF carrier.

When one parent has had a positive CF carrier test and the other parent has a negative CF carrier test, their chances of having a child with CF in the future is very low, but not zero.

More than 1,800 different mutations have been found on the CF gene. Routine CF carrier tests do not check for every possible mutation, only the most common. You can learn more about mutations in the CFTR2 database.

To learn more about CF carrier testing, talk with your doctor. Your doctor can explain the blood tests that can give more information about your carrier status and your chances of having a child with CF in the future.

A genetic counselor can help you learn more about CF carrier testing and arrange for you to be tested. The CF Foundation-accredited care center where the baby was sweat tested may also offer CF carrier testing.

If you are not sure if your baby is a CF carrier, ask your baby’s pediatrician or health care provider.

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Updated 3/19/2014

The Cystic Fibrosis Foundation is an accredited charity of the Better Business Bureau.