Reproductive Carrier Screening
Reproductive carrier screening, or genetic carrier screening, is a test to see if you or your partner are carriers of certain genetic disorders. If you or your partner are concerned that either of you may be carrying a genetic mutation that may cause a serious inherited disorder in your baby, you may want to get tested. Usually, the disorders people screen for are cystic fibrosis, sickle cell disease Tay-Sachs disease, and thalassemia. There are more than 100 other disorders that you may want to test for. Although a lot of these conditions are rarely found, one large study found that about 1 out of 4 of the patients tested were carriers of at least one mutation.
If your child inherits the disease or disorder both you and your partner must have a carrier gene. Because these diseases are recessive, a baby must inherit a defective gene from each parent to have the disease. If you are a carrier, it means that you have one normal copy of the gene from one parent, and a mutated copy of the gene from your other parent. If you and your partner are both carriers of a disorder like cystic fibrosis, sickle cell, or Tay-Sachs, your child has a 25% chance of inheriting one defective gene from each of you and being born with the disease. You should ideally get reproductive carrier screening done before you conceive. That way you can find out if you and your partner are both carriers and sort out your reproduction choices accordingly.
You should, and your partner should get screened if you are determined to be at risk of being a carrier. An example of a risk factor would have a family member who has an inherited disorder or who is a known carrier. Being a part of an ethnic group that is at increased risk for a certain disease is also a risk factor. However, many people don’t belong to distinct ethnic categories, are mixed race, adopted, or simply can’t be sure what the ethnicity of their ancestors was. Because of this, there is not a good way to determine who is at risk for being a carrier of a particular mutation.
During a reproductive carrier screening
Your doctor will ask you for a sample of your blood or saliva. If you are found to be a carrier, your partner will be screened as well. Or you and your partner can get screened at the same time to get results as quickly as possible. You should be given an option to talk to a genetic counselor before and after your screening. A genetic counselor can help you understand your results and your family planning options.
You may consider consulting a medical geneticist, a doctor who is specially trained and board certified in the field of genetics. You can find genetic services by looking on the website for the American College of Medical Genetics and Genomics. If you find out this information before you are pregnant, you may want to try getting artificially inseminated with sperm from a donor who is not a carrier. In vitro fertilization with special testing of an embryo before it is implanted. This is called preimplantation genetic diagnosis. You may also decide to adopt a child or opt out of having children altogether. Sadly, many women aren’t offered reproductive carrier screening until after they are already pregnant. If you are pregnant and want carrier screening, make sure you get it done as early as possible in your pregnancy.
The world of genetic testing can be hard to navigate, but with the support of your partner, your primary care physician, and genetic specialists, you can decide on a family plan that is safe for you and your child.
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