KEY TAKEAWAYS
• Genetic testing before pregnancy, or carrier screening, is a simple blood test that can identify if you or your partner carry genes for certain inherited disorders that could affect a future child.
• This testing gives you valuable information for family planning, allowing you and your healthcare team to create a personalized care plan, arrange for specialized care if needed and make informed decisions.
• If you receive an unexpected result, resources like genetic counseling and support groups are available to help you understand the information, process your options and navigate the next steps with confidence.
SUMMARY
Genetic testing before pregnancy provides important information about your health that can empower you to make informed choices for your family’s future. Speaking with your primary care provider, OB-GYN or a genetic counselor can help you decide if this screening is the right step for you as you begin your family planning journey.
Preparing to grow your family is a major milestone, and with it comes a lot of important decisions. As you think about this new chapter, you might wonder how your health and family history could affect your future child. Genetic testing before pregnancy is a powerful tool that can provide valuable insights and help you make informed decisions for your family.
By looking at your unique genetic makeup, this testing can identify if you carry certain inherited conditions. Benjamin Winfree, MD, an OB-GYN with OhioHealth, shares insights about what’s involved with pre-pregnancy genetic testing, who should consider it and what kind of support is available to you along the way.
What is genetic testing?
Genetic testing before pregnancy, also known as carrier screening, helps determine if you or your partner carry a gene for certain genetic disorders. This testing uses a simple blood sample to look for genes associated with inherited conditions such as cystic fibrosis, spinal muscular atrophy or sickle cell disease.
“The screening that we do before pregnancy is basically screening for a number of genetic mutations or abnormalities that a patient could be a carrier for,” explains Dr. Winfree. Even if you are healthy, you can still be a carrier for a condition that could be passed on to your child.
Reproductive genetic testing before pregnancy focuses on parents’ DNA, not the baby’s. This differs from genetic testing during pregnancy which focuses on the health of the developing fetus, screening for Down syndrome and other conditions.
Who should consider genetic testing?
In the past, genetic testing was mostly offered to people at higher risk, such as those over 35 or those who have a known family history with genetic disorders. However, now it’s been made more widely available.
“[Testing] used to be reserved for higher risk patients, such as those at a higher maternal age. The tests now are so sensitive and specific that we are applying them to almost everybody,” says Dr. Winfree. He adds that not all insurances cover genetic testing, so cost can often be a determining factor.
Testing is particularly encouraged for individuals who:
- Have a family history of genetic disorders like cystic fibrosis, sickle cell trait, spinal muscular atrophy, etc.
- Come from certain ethnic backgrounds which can carry higher risks for some genetic conditions. For example, those of Ashkenazi Jewish ancestry show a higher frequency of Tay-Sachs disease and Canavan disease.
- Are at an advanced maternal age (typically over 35).
- Wants to know and plan for potential risks.
Ultimately, the choice is a personal one. “The big question is what would you do with that information and is that something you want to know ahead of time?” says Dr. Winfree.
When and how is genetic testing done?
If you decide to pursue genetic testing, timing is an important consideration. Getting tested before you start trying to conceive gives you more time to process the results and plan accordingly.
“If someone wants to know before they get pregnant, then I’d recommend doing it at least six months before. It takes about two or three weeks to get the test results back,” advises Dr. Winfree. This timeframe allows for any necessary follow-up, which could include testing a partner or speaking with a genetic counselor.
If parental genetic testing is done during pregnancy, it’s typically performed early on — during the first trimester or early second trimester. Generally, for tests that screen the fetus, the earliest providers can perform these is around 10 weeks.
For prospective parents, the process is simple. Start by having a conversation with your OB-GYN or primary care doctor about your personal and family medical histories. Next, you’ll have blood drawn to screen for specific genetic disorders. Then, you’ll wait for the results and review with your healthcare provider. If one partner tests positive as a carrier, the next step often involves testing the other partner.
Genetic testing for the baby during pregnancy can be more involved, as it may include blood tests from the parent and amniotic fluid sampling or sampling of the placenta.
How test results can impact your care
Receiving a positive result for a genetic condition can be concerning, but it’s the first step toward creating a personalized care plan.
“If a test shows you carry a specific genetic condition, a lot of times I’ll have that patient see our genetic counselors” says Dr. Winfree. He also notes that support is widely available. “Some of these labs also have their own in-house genetic counselors they can speak with over the phone or do virtual appointments with.”
Knowing about potential risks ahead of time allows your medical team to prepare for the best possible outcomes. For certain conditions, this knowledge is critical for delivery planning. “Certain genetic abnormalities, such as Trisomy 18 and Trisomy 21, make your testing more important from a planning standpoint so we can consider where the best place to deliver would be,” says Dr. Winfree. “Do we need to have consultants, like cardiology or surgery, ready and available for the newborn?”
Genetic testing is personal
Deciding whether to pursue genetic testing is deeply personal. For some, the information provides peace of mind, while for others, it may cause worry. It’s important to consider how you will handle the information you receive.
“Is it going to make them more anxious during a pregnancy? That’s one reason why some may choose not to get testing done,” Dr. Winfree explains. “Pregnancy can cause a lot of anxiety — dealing with bodily changes, how the baby will change their lives and routines — and sometimes genetic testing can add more stress to that. For many patients, though, it’s a relief to have the results and know.”
If you receive an unexpected result, it’s crucial to seek guidance from specialists who can provide clarity and support. A genetics counselor or specialist can give you more information so you know what next steps should be.
Dr. Winfree’s primary advice for patients is to move forward thoughtfully. “Take time to process it. Don’t make any rash decisions and seek expert care and consultation to know what those true risks are.” He adds that it’s important to remember that you are not alone. There’s a lot of support groups, resources and therapies available for those that experience unexpected test results.
Your path, your choice
Genetic testing before pregnancy offers a window into your health that can help you plan for your family’s future. Whether you’re just starting to think about pregnancy or are actively trying to conceive, a conversation with your OB-GYN can help you decide if genetic testing is the right choice for you. With expert guidance and a strong support system, you can navigate this journey with confidence and care.
To find the right OB-GYN for you, and to take the next steps with genetic testing, click here.
