Cystic Fibrosis

Reviewed by James Brann, MD
Cystic fibrosis, or CF, is a genetic disorder caused when a parent passes an abnormal gene on to their child. This lifelong illness leads to problems with breathing and digestion, affecting all of the body’s organs. It doesn’t affect your mental ability or looks, though. In certain situations, CF may shorten a person’s life span and pose serious health risks. Despite any physical problems, though, many people who have CF lead full lives with careers and school.

Cause of CF

Cystic fibrosis is a recessive disorder, meaning both parents have to carry a copy of the abnormal gene in order for it to occur in their child. If a person only has one copy of an abnormal gene for a recessive disorder like CF, they’re only a carrier and may not even show signs of the disorder. If both parents are considered carriers, their children have a 25% chance of getting it. In other words, they have a one in four chance of having a child who has CF.

Symptoms of CF

The symptoms vary greatly in severity and type. For many people, it means a sticky, thick mucus that builds up over time, clogging their lungs. This not only makes it difficult to breath, but also may result in infection. It can also cause problems for the digestive organs, making it more difficult for a person’s body to break down and absorb food. Most men who have cystic fibrosis are sterile, meaning they can’t father a child.

Treatment for CF

While there are new treatments and drugs that can help with CF, it remains a lifelong disease. Most kids who have CF need physical therapy for a half hour a day to treat lung problems. This helps them clear out mucus from their lungs. It’s usually pretty easy to do, with some help from family members.

Risk factors for CF

Certain ethnic groups and races have a higher chance of being a CF carrier. Most often, white people are most at risk. This risk also goes up with families that have a history of CF

Testing for CF

To find out whether you’re a carrier, testing is available for either couples planning to get pregnant or those who already are pregnant. It’s done with a blood sample. All pregnant women may also get carrier testing. If the testing comes back showing a couple is in the high-risk category, you can decide to do additional testing on your unborn child. If one parent has test results that come back negative, there’s a very small chance of being a CF carrier. Some rare CF gene defects can’t be detected with the test. For this reason though, usually further testing isn’t recommended. If one partner comes back positive for CF, the other partner needs to be tested. For a child to have CF, both parents have to be CF carriers. If the child’s father can’t be tested for any reason, you may want to talk to a genetic counselor about testing your unborn child. Again, if both parents come back positive as carriers, the chance of their baby having CF is 25%. It’s more likely, though, that the baby will be like its parents and be a carrier. This means they’ll have the gene but not the disease. Of course, there’s also a chance of the baby not being a CF carrier, even if both parents are.

Follow-up testing

If both parents are CF carriers, testing can be done on their baby. This type of testing isn’t recommended if only one parent is a carrier. However, some parents want to know if their baby has CF so that they can start lining up some special needs health care. Others may want to end the pregnancy.

Prenatal tests for CF and other disorders

They types of prenatal tests for detecting CF and other disorders include amniocentesis and chorionic villus sampling, or CVS. You can test for CVS at week 9 of pregnancy. With amniocentesis, you have to wait until between weeks 15-20 of pregnancy. If either of these diagnostic tests shows the baby does have CF, the parents have two options. With the first option, the pregnancy continues and you’ll start learning more about the disease, about treatment options, and as much as you can from other families dealing with the same thing. With the other option, some parents choose to end a pregnancy. The laws regarding pregnancy termination vary by state. You need to talk to your doctor. You may also want to consult close friends, counselors, and of course, your partner.

Future pregnancies

If tests come back showing you are a CF carrier, the results won’t change. As stated above, if both parents are carriers, you have a one in four chance of having a child with CF with each pregnancy. To know for sure, you’ll have to have CVS or amniocentesis every time. Other options include using donor eggs or donor sperm. However, you need to make sure the donor was tested for CF carrier status. You may also choose adoption or in vitro fertilization with your own eggs and sperm. In this case, pre-implantation genetic diagnosis can be used to find out if the fertilized egg is a CF carrier, or has CF.


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