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Not long ago, you and your partner took a carrier test for cystic fibrosis (CF). You have been given this booklet because the results of that test revealed that both you and your partner are carriers of the changed CF gene (CF carriers).
The purpose of this booklet is to explain to you the meaning of your test results and what steps you can take next.
It is completely normal at a time like this to feel distressed and confused. We hope that after reading this booklet, you will feel somewhat reassured and have a much better understanding of your situation. After you read this booklet, it will be helpful for you to speak with your health care provider about the next steps you want to take. You might want to plan to bring your partner to this visit or bring any other people with whom you usually share important decisions. They might want to read this booklet as well. What do my test results mean? The test results mean that you and your partner are both carriers of the changed CF gene. This does not have any impact on your health. However, it means that your developing baby may have CF. It is important to remember that the result you received does not mean that your baby definitely will have CF. What is the chance that my baby will have cystic fibrosis? There is a 1-in-4 (25%) chance that the baby will have CF. Stated another way, there is a 3-in-4 (75%) chance that the baby will not have CF. There is a 1-in-2 (50%) chance that the baby will be a carrier, like you and your partner. This will not have health consequences for the baby, but she or he could be at risk for having a child with CF in the future. There is also a 1-in-4 (25%) chance that the baby will have no changed CF gene—that is, neither have the disease nor be able to pass on the gene. Can I find out if my baby will have cystic fibrosis? Yes, through additional testing during pregnancy. Chorionic villus sampling (CVS), generally done around the 11th week of pregnancy, is done by using a small instrument to remove a very small portion of the placenta. This portion is analyzed to determine if the baby has CF. Amniocentesis, generally done around the 16th week of pregnancy, is performed by removing a small amount of fluid surrounding the baby using a thin needle inserted into a woman's uterus. The fluid is analyzed to determine if the baby has CF. If you decide not to have this prenatal testing, you can find out whether or not the baby is affected with CF after its birth through a simple test done on a sweat sample. Are the results of these tests definite? Yes. The results of these prenatal tests (that is, amniocentesis or CVS) are nearly 100% accurate about whether or not the baby will have CF. However, they usually cannot tell you how severe or mild the disease will be if the baby has CF. The next section gives more information on the range of symptoms someone with CF may experience. What should I know about cystic fibrosis? Cystic fibrosis is a life-long illness that is usually diagnosed in the first few years of life. The disorder causes problems with breathing and digestion. Cystic fibrosis does not affect intelligence. What are the health needs of children with cystic fibrosis? The digestive problems usually can be treated by taking medicine daily. To treat lung problems, most children with CF need to have physical therapy for about a half hour every day; this helps clear mucus from the lungs. This is something that parents or other family members can do. Sometimes lung infections still develop. They may need to be treated with antibiotics at home or in a hospital. However, the infections tend to become worse over time and more difficult to treat. Treatments are costly and may be burdensome without adequate health insurance. Men and women with CF may have problems with reproduction. Almost all men with CF are sterile. That means that usually they cannot have children of their own because they do not produce sperm. This does not, however, affect their sexual performance. Women with CF are not sterile. They may have pregnancies, but depending on the severity of the illness, they may choose not to bear children. Cystic fibrosis does not affect the sexual functioning of women. Do all people with cystic fibrosis have the same symptoms? No. Some individuals have far milder symptoms than others for reasons that are not completely understood. It is not always possible to tell from a prenatal test how mild or severe a child's symptoms will be. While in general people with CF have a shortened life span, some die in childhood, while others live into their 40s or even longer. Although there is no cure for CF, more effective treatments are being developed. Still, by adulthood, most people with CF will have some breathing and digestive problems. Despite these physical problems, there are many people with CF who attend school and have fulfilling family and professional lives. Might others in my family be cystic fibrosis carriers? Yes. Even if no one in your family has had CF, other close relatives, such as brothers, sisters, aunts, uncles, and cousins, may also be carriers. This information might be useful for them to know if they are planning pregnancies. This is something you might want to discuss further with your care provider. What if the amniocentesis or CVS results show that the baby does not have cystic fibrosis? If the test results indicate the baby will not have CF, you can go through the rest of your pregnancy feeling assured that the baby will not develop this condition. There is a 3-in-4 (75%) chance that this will be the result of your prenatal test. What about future pregnancies? It is important to remember that you and your partner have both been shown to be carriers of an altered CF gene. This means that in each pregnancy the two of you have together, that baby will also have a 1-in-4 (25%) chance of having CF. If you want to know whether or not that baby will develop CF, you will have to have amniocentesis or CVS in each pregnancy. There are several choices couples in your situation can make when thinking about possible future pregnancies. Some couples decide to:
You should feel free to discuss these options with family, friends, and your physician or spiritual counselor when you are considering future pregnancies. A brief review of the genetics of cystic fibrosis Cystic fibrosis is a genetic disorder. It is caused by changes in a pair of CF genes. All genes come in pairs. One set comes from the mother and the other set from the father. Some genes do not function properly because there is a mistake in them. If a gene has a mistake, it is said to be altered or changed. Everyone has two copies of each gene. For CF to occur, a person has to inherit one altered gene from each parent. If a person inherits one changed copy of a CF gene, that person is a carrier for CF. A carrier does not have CF. There are no known health problems associated with being a carrier. However, when a couple are both carriers, any child they have may inherit one changed copy of the gene from each parent. A child with two changed copies of the CF gene will develop CF. If all tests show that the baby will have cystic fibrosis, what are my options? Cystic fibrosis is not a curable disease. There are treatments available. However, there are no treatments available before the baby is born. Therefore, there are only two decisions that are possible once it is found out that a fetus has CF.
The most important thing to remember is that this is not a medical decision but rather a decision based on your own values. The following questions are some of the kinds of things couples may want to think and talk about in making this decision. In many ways, they are not very different from the sorts of things families think about in preparing for any pregnancy:
Resources to help me learn more about cystic fibrosis:
Important questions to ask people, such as my health care provider: _____________________________________________________________________ _____________________________________________________________________ _____________________________________________________________________ _____________________________________________________________________ _____________________________________________________________________ October 2001 This booklet was developed under the direction of the Cystic Fibrosis Steering Committee and the Patient Education Working Group of the American College of Obstetricians and Gynecologists and the American College of Medical Genetics. The information in this booklet does not dictate an exclusive course of treatment or procedure to be followed and should not be construed as excluding other acceptable methods of practice. Variations taking into account the needs of the individual patient, resources, and limitations unique to the institution or type of practice may be appropriate. Copyright © 2001 Requests for authorization to make photocopies should be directed to the Copyright Clearance Center, 222 Rosewood Drive, Danvers, MA 01923.
The American College of Obstetricians and Gynecologists 12345/54321 |