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If you’re looking to build your family, you may have considered carrier testing or prenatal genetic testing to reduce the risk of passing a genetic disorder on to your child. Still, there are both pros and cons of genetic testing to consider. We look at different types of genetic testing, along with the main benefits and drawbacks of genetic testing.
Genetic testing looks for changes or mutations in your DNA. The test analyzes your genes, chromosomes, or proteins to identify these changes, generally using a sample of blood, saliva, or amniotic fluid.
Genetic testing during pregnancy is common, but testing may be done for a variety of reasons, such as:
Currently, there are over 77,000 genetic tests available. Genetic testing comes in several main types depending on your symptoms and goals, and there’s no one test that can check for all the types of genetic disorders.
Karyotype testing looks for changes in chromosomes that could be linked to genetic disorders. Since your chromosomes hold your genes, having abnormal numbers of chromosomes or missing pieces of chromosomes can cause genetic disorders. Karyotype testing for genetic testing may be used to:
Karyotype testing may be done using a blood test, cheek swab, or bone marrow test. For unborn babies, it uses an amniocentesis (extracting amniotic fluid through a thin needle) or chorionic villus sampling (taking a tissue sample from the placenta).
Diagnostic testing is typically done in people who have symptoms of a genetic disorder to identify and confirm the condition. This type of genetic testing can be done any time, including before a person is born, to look for genetic disorders. However, as with other genetic testing, diagnostic testing can’t identify every genetic condition that exists.
Carrier testing, also called carrier screening, checks to see if you have genes that are linked to specific diseases or genetic conditions. Unlike diagnostic testing, screening tests only assess a person’s likelihood of developing or passing down a genetic condition.
This is an important consideration if you’re building your family, because you can potentially pass these genes, and the associated disease, on to your child even if you don’t have the disease yourself. As such, genetic testing can play a crucial role during pregnancy.
Typically, both you and your partner will need to be carriers for your child to have a chance of developing the disease. That’s why it’s often important for both partners to undergo genetic testing, particularly if you or your partner is found to be a carrier, has a family history of a genetic condition, or is part of an ethnic group that has an increased risk for a genetic disorder. If both parents are carriers, the child will have a 50% chance of being a carrier and a 25% chance of inheriting the mutated genes from both parents and developing the genetic condition.
Carrier testing can be done using a blood, saliva, or tissue sample. This type of genetic testing may be conducted before or during pregnancy.
Prenatal genetic testing looks for genetic disorders in the fetus during pregnancy. Prenatal screening tests use blood tests and ultrasounds to look for abnormal numbers of chromosomes that could indicate Down syndrome, physical defects, and other disorders. Prenatal diagnostic tests use an amniocentesis or chorionic villus sampling to obtain cells for testing, with the results revealing whether the fetus has specific disorders.
This test can be used with in vitro fertilization (IVF) to check an embryo for genetic disorders before implanting it in the uterus. This ensures that only embryos without known genetic disorders are used for the pregnancy, increasing the chances of a healthy pregnancy and child.
There are many potential benefits of genetic testing. These can include:
Genetic testing isn’t for everyone. In some cases, the negatives may outweigh the benefits, particularly if it’s too expensive or the results won’t affect your care. Some of the main downsides of genetic testing may include:
Genetic testing costs may or may not be covered by your insurance and can cost from as little as $100 to as much as over $2,000. Newborn screening tests, which check for genetic disorders in babies, may cost between $30 and $150.
Genetic testing may be more expensive if you need multiple tests or if your family members need to be tested too.
There are also some genetic testing kits available for certain diseases that allow you to do genetic testing at home. The cost range is similar to that of conventional genetic testing, but these genetic testing options are unlikely to be covered by insurance.
Genetic testing before pregnancy is important, but it’s not the only test that’s essential when planning to have a child. Fertility testing can help when you’re trying to conceive by revealing your sperm health and potential barriers you may face in conceiving a pregnancy.
You can easily test your fertility with Legacy’s at-home semen testing kit. Together with genetic testing, fertility testing can help give you the best chance of a healthy pregnancy and a healthy child.
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