If you’re an expectant parent, or planning a pregnancy, you probably want to know all you can about your future family. Genetic carrier screening allows for a closer look at your genes, to see if there is a chance your baby could inherit certain genetic disorders. It’s a simple test that can help you plan with confidence.
Genetic carrier screening is a type of testing that can identify your risk for having a child with one of the hereditary diseases that can cause death or disability. Your doctor may also recommend an extended test panel that includes a larger number of very rare disorders, or disorders that are treatable, though not curable.
Watch a video to learn more about genetic carrier screening for hereditary disorders.
How are genetic disorders inherited?
You have two copies of every gene: one copy was inherited from your mother and one copy from your father.
A person who has one normal gene and one abnormal gene that can cause a genetic disorder is called a carrier. A carrier is not affected by the disorder, but they can pass on the abnormal gene to future generations. If both parents are carriers of the same disorder, then their children are at risk of being affected by the disorder. A child who inherits one copy of the abnormal gene from each parent (resulting in two copies) will be affected by the disorder. With each pregnancy, there is a 1 in 4, or 25%, chance of this happening.
Who can be a carrier?
Anyone can be a carrier of a genetic disorder, even if there is no family history. Many times, genetic disorders stay “hidden” in a family. You could be a carrier and not know it until a child is born with the disease.
How is the test performed?
A simple blood test can determine with a high degree of accuracy whether you are a carrier of a genetic disorder.
What does a negative result mean?
A negative result indicates you are not a carrier of any of the disorders tested, which can provide significant peace of mind. However, no test can detect 100% of genetic carriers. Even if your test results are negative, it is still possible that your baby could inherit a genetic disorder, although the chance is extremely small.
What does a positive result mean?
A positive result tells you that you are a carrier of a genetic disorder, and you could be at risk of having an affected child. In most cases, it is important to find out if your partner is also a carrier.
What if my partner and I are at risk for having a child with a genetic disorder?
If you are pregnant, prenatal diagnostic tests may be available to tell you whether your baby is affected by the disorder.
There are also options to prevent genetic disorders prior to pregnancy. These include in vitro fertilization, using a diagnostic test to select healthy embryos for implantation, or using donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your doctor or a genetic counselor can discuss these options in greater detail.
Is genetic carrier screening required?
All testing is optional. The decision to accept or decline genetic carrier screening is completely up to you.
Talk to your healthcare provider to find out if this test is right for you.