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.
Key takeaways
- Genetic testing looks for mutations in your DNA to help diagnose genetic disorders or evaluate your chance of passing a genetic condition down to your children.
- There are different types of genetic testing depending on your symptoms, family history, or goals for genetic testing, such as getting pregnant.
- It’s important to keep in mind both the benefits of genetic testing, such as increased knowledge about your health, and the drawbacks, like increased anxiety and testing costs, when deciding whether genetic testing is right for you.
What is 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:
- assessing your risk of passing a genetic disorder on to your children
- checking if an unborn child has a genetic disease or other genetic condition
- determining whether you’re at risk of developing a specific disease
- diagnosing some diseases or evaluating their severity
- helping determine a suitable medication for you
Types of genetic testing
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
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:
- check if infertility or miscarriages may be related to abnormal chromosomes
- check parents for abnormal chromosomes that they could pass down to their child
- look for abnormal chromosomes in an unborn child
- evaluate your risk of having a genetic disorder that runs in your family
- diagnose some diseases, including certain cancers and genetic disorders
- determine the best treatment for diseases like leukemia and lymphoma
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
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 genetic testing
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
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.
Preimplantation genetic testing after IVF
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.
Pros of genetic testing
There are many potential benefits of genetic testing. These can include:
- offering a sense of relief based on increased knowledge about your health
- identifying a genetic condition that might be passed on to your offspring, which can help you decide if or how you want to have children
- finding a genetic disorder in an embryo, giving you the opportunity to decide whether to continue the pregnancy
- helping diagnose a genetic cause of infertility
- diagnosing a genetic disease so you can seek early monitoring or appropriate treatment, whether for yourself or your child
- giving you the opportunity to help educate other family members about their potential risk
Cons of genetic testing
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:
- increased stress, anxiety, or depression around testing, especially if the results are poor or inconclusive
- inability of genetic testing to identify every possible disease or genetic defect, meaning that even if you test negative, there’s still a possibility you could have a genetic disorder or pass it to your offspring
- lack of information provided by genetic testing, such as how severe the symptoms of a genetic disorder will turn out to be
- the potential for there to be few treatment options depending on the genetic disorder
- tension or unease among family members, since if you’re found to have a genetic mutation, members of your family may have it as well
- genetic testing costs, particularly if your insurance doesn’t cover the tests
- for genetic testing in pregnancy, an increased risk of miscarriage when conducting prenatal diagnostic testing using an amniocentesis or chorionic villus sampling
Genetic testing costs
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.
Other ways to plan for pregnancy: Fertility testing
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.