WHAT IS CARRIER SCREENING?
When you are pregnant or planning to become pregnant, you want everything to go right. While most babies are born healthy, with every pregnancy there is a small chance of having a baby with a genetic disorder. With Invitae carrier screening you can clearn your risk for passing on an inherited genetic disorder to your child.
Carrier screen is a type of genetic test that analyzes your DNA to provide specific information about your child’s risk for certain genetic disorders. This information allows you to make informed reproductive choices.
FACTS ABOUT CYSTIC FIBROSIS DNA CARRIER TESTING
WHAT IS CYSTIC FIBROSIS?
WHAT IS THE PURPOSE OF CYSTIC FIBROSIS CARRIER TESTING?
HOW IS CYSTIC FIBROSIS INHERITED?
WHAT ARE THE CHANCES TO BE A CARRIER?
Even if no one in your family has CF and even if you already have children without CF, you could be a carrier of CF. In various populations, the table below shows the frequency of CF carriers and the detection rates of the carrier testing. If someone in your family has CF or is a carrier, your risk will be higher than the risks listed below. Carrier testing requires a small sample of blood and the results take several weeks.
The testing is highly accurate. However, a negative test result means that a small chance of being a carrier remains. This is because current testing does not include rare mutations, which may be present and lead to the occurrence of CF in a child. Thus, if only one member of a couple is found to be a carrier, while the other tests negative, it is still possible for a child to be affected. However, that chance is quite small. Genetic counseling would be available and the new risk can be calculated. In some cases, further testing may be warranted.
If a pregnancy is already underway as you are deciding about testing, it is best to test both partners at the same time because of the length of time it takes for results, usually several weeks. If CF testing shows both parents are carriers, genetic counseling will be recommended to provide you with more information about CF, as well as to discuss your prenatal options. You may also request genetic counseling prior to having any testing.
IS THERE PRENATAL TESTING FOR CYSTIC FIBROSIS?
IF I HAD CYSTIC FIBROSIS TESTING PERFORMED, DO I NEED IT AGAIN?
DECIDE ON TESTING
After learning about CF testing, some people decide to have testing and others decide against it. The cost of testing is covered by some insurance plans and not by others. It is important to ask your health insurance company about its policies, as some plans may not cover genetic testing or may require that you obtain a referral prior to testing. If you have further questions about CF testing, discuss them with your WomanCare physician.
- I understand that the decision to be tested for CF carrier status is completely mine.
- I understand that the test does not detect all CF carriers.
- I understand that if I am a carrier, testing the baby
Amniocentesis
ABOUT THE TEST
RISKS
The test is considered safe; however, there are risks. This risk of miscarriage is under ½%. Some women leak amniotic fluid or notice vaginal spotting. A fever over 100 degrees, chills, contractions, irritability and uterine tenderness may indicate an infection. If you have any of these symptoms, call your doctor immediately.
