Genetic Testing Before Trying To Get Pregnant: What To Know

Sponsored by Labcorp

Long before a positive pregnancy test, many people find themselves in a preconception appointment, being asked questions about family medical history they've never had to think about before. Conditions on both sides of the family. Ethnic background. Past diagnoses.

It can feel empowering to plan ahead, while also realizing how much there is to learn.

That moment often raises new questions. What genetic testing is relevant before pregnancy? Which tests are commonly recommended? And how much information is actually helpful right now?

Genetic testing before pregnancy can offer insight into inherited risks and support more informed conversations with healthcare providers. For some, it brings reassurance. For others, it raises follow-up questions or decisions they didn't expect to face. Either way, having access to clear, evidence-based information can make the planning process feel more manageable.

What is genetic testing before pregnancy?

Genetic testing before pregnancy most often refers to carrier screening. Carrier screening is a genetic test that can help determine if someone (and, if indicated, their partner) carries variants in certain genes associated with a genetic disorder.

Carriers usually don't have symptoms. They may or may not know they carry a gene variant, and if so, that they may pass it on to their children.

Carrier status becomes relevant when thinking about inherited risk for future children. In many cases, the risk depends on whether both reproductive partners carry a variant in the same gene. In other circumstances, the risk to future children depends only on the mother's carrier status.

It's also worth noting that anyone can carry a genetic variant, regardless of ethnicity or family background. In fact, most babies born with cystic fibrosis come from families with no known history of the condition.

Preconception carrier screening focuses on identifying these inherited risks before pregnancy begins. This timing allows more flexibility for follow-up testing, genetic counseling, and decision-making if something unexpected comes up.

Carrier screening may look for conditions such as:

• Cystic fibrosis

• Spinal muscular atrophy

• Sickle cell disease

• Certain thalassemias

• Inherited metabolic, neurological, or intellectual disability-related conditions

Why genetic testing matters

Inheritance patterns can vary depending on the condition.

For many recessive conditions, a child inherits one gene variant from each parent. If both variants are on the same gene, the child may be affected, even if the two variants are different from each other. If only one parent carries a variant, the child is typically unaffected, though they may carry the variant themselves.

When both partners are carriers of the same recessive condition, each pregnancy has an increased chance (25%) of being affected, a 50% chance of being an unaffected carrier, and a 25% chance of inheriting neither variant. This pattern is well-established in medical genetics and outlined in the ACOG's (American College of Obstetricians and Gynecologists) Committee Opinion on carrier screening.

Not all inherited conditions follow this pattern, though. Some conditions are X-linked, meaning they're carried on the X chromosome.

With X-linked conditions like fragile X syndrome (FXS), the most common genetic cause of inherited intellectual disability, only the biological mother needs to be a carrier to be at risk for having an affected child.

When a biological mother carries an X-linked variant, there is up to a 50% chance of passing it on to a child. While these conditions are seen most often in boys, girls can also show symptoms in some cases. This is why carrier screening looks at a range of inheritance patterns, not just recessive ones.

Donor screening considerations

Carrier testing also applies to individuals and couples pursuing pregnancy through donor sperm, donor eggs, or gestational carriers. Many fertility clinics require or strongly recommend carrier screening for donors to reduce inherited risk and guide matching decisions.

For those using donor gametes (sperm or eggs), asking about the donor's carrier screening results is a reasonable and important part of the process. If a recipient is already known to be a carrier of a particular condition, reviewing the donor's carrier status will help inform reproductive decision-making.

What carrier screening doesn't cover

It's worth knowing what carrier screening isn't designed to detect. It doesn't screen for chromosomal conditions like Down syndrome, structural birth defects, autosomal dominant conditions, or conditions like autism spectrum disorder. (These aren't caused by the types of genetic variants that carrier screening looks for.)

Prenatal testing options, like cell-free DNA screening or diagnostic testing during pregnancy, address some of these separately. An OB/GYN, genetic counselor, or other healthcare provider can help clarify which tests are relevant based on individual circumstances.

Should you do genetic testing before getting pregnant?

Genetic testing before pregnancy is a personal decision. Some people want as much information as possible before trying to conceive, while others prefer to wait or only test if there's a known concern. Both approaches are valid, and there's no single right answer.

Medical organizations broadly support offering carrier screening. The ACOG recommends that all individuals considering pregnancy, or who are currently pregnant, be offered carrier screening.

Updated guidance from the American College of Medical Genetics and Genomics (ACMG) reflects the reality that many people have mixed ancestry or limited knowledge of family medical history, making expanded carrier screening a more inclusive approach.

Guidelines published in the Journal of Genetic Counseling in 2023 also recognized that expanded carrier screening identified significantly more at-risk couples than ethnicity-based screening alone, particularly in diverse populations.

Knowing carrier status ahead of time creates space to understand results, talk through implications, and make decisions without urgency. For many people, that means:

• Early decisions around prenatal diagnostic testing while pregnant

• More informed conversations about timing or fertility treatment

• Time to connect with specialists like genetic counselors or high-risk OB/GYNs

• A broader view of reproductive options, including IVF with preimplantation genetic testing (PGT), donor eggs or sperm, or adoption

In some cases, it also means being able to prepare for the care and support a newborn may need right from the start. This matters more than ever, as advances in treatment mean that earlier awareness can lead to earlier access to therapies that may significantly improve outcomes for affected children. For many conditions, the sooner treatment begins, the better.

How to get genetic testing before pregnancy

Most people start by talking with a healthcare provider: an OB/GYN, primary care clinician, or fertility specialist. If you're heading into your first fertility appointment, carrier screening is often part of the initial workup.

These providers can walk through available tests, order screening, and connect patients with genetic counselors when needed. Genetic counselors play a key role in the process, helping interpret results, explain inheritance patterns, and discuss the next steps without pressure.

Clinical laboratory testing

Labcorp works directly with healthcare providers to offer carrier screening, prenatal testing, and other preconception evaluations using validated methods. With a wide network of genetic counselors dedicated to supporting patients, results are interpreted in the full context of a person's health, history, and goals. 

What to expect: the process

Preconception genetic testing is typically straightforward. Most screening involves a blood draw or saliva sample, and collection usually takes only a few minutes.

Results are often available within two to three weeks, depending on the panel ordered. They're typically shared through a lab report reviewed during a follow-up appointment. Many people find it helpful to review them with a genetic counselor who can explain technical language and answer questions.

Understanding costs

Many insurance plans cover carrier screening, and most patients pay $0 with insurance coverage.

Financial assistance options and various programs are also available to help make testing accessible regardless of budget. Patient-assistance programs can cap out-of-pocket costs, so testing is within reach for more people.

Checking coverage ahead of time and asking about financial assistance options can help reduce any stress around cost.

What genetic testing should I get before pregnancy?

Most preconception testing begins with carrier screening, which comes in a couple of forms. Standard carrier screening panels typically include conditions recommended by medical societies like ACOG due to their severity, early age of onset, and available interventions, in addition to their prevalence in the general population or in certain ethnicities. Expanded carrier screening panels test for a wider range of conditions, sometimes hundreds at once.

Some providers still discuss ethnicity-associated screening. For instance, testing for Tay-Sachs disease in individuals with Ashkenazi Jewish ancestry or sickle cell disease in people with African ancestry.

However, many clinicians now favor expanded screening regardless of background, since ancestry is often mixed or unknown. In some situations, testing may also include evaluation for known inherited conditions already identified in a family.

Since recommendations vary, testing decisions work best when discussed with a healthcare provider or genetic counselor.

Understanding your genetic results (and what comes next)

Receiving genetic test results can bring relief, confusion, or a mix of both. All of these responses are completely normal.

A negative result means no variants were identified. It lowers risk but doesn't eliminate it entirely, since carrier screening is a screening tool, not a diagnostic test, and no panel covers every possible condition.

A positive carrier result indicates the presence of a variant in a gene. This doesn't mean a future child will be affected. Next steps often include partner testing, genetic counseling, and discussion of reproductive options. Genetic counselors help translate results into practical information, including actual risk levels and possible paths forward.

Decisions that follow a positive result are deeply personal and may evolve over time. Talking with partners, counselors, or trusted providers can help process information without rushing toward conclusions.

The bigger picture: testing as part of preconception care

Genetic testing is one piece of preconception care, alongside steps like taking folic acid, managing chronic conditions, reviewing medications, and supporting mental health.

Preconception care is about building a foundation that supports physical well-being, emotional readiness, and informed decision-making — on your timeline, with information you can actually use.

Some people pursue testing early. Others revisit it later. Timelines differ, and preferences change. Asking questions, seeking support, and working with trusted providers can help align care with your personal values and goals.

When you're ready to take that next step, Labcorp offers comprehensive preconception and prenatal screening options, with genetic counselors available to help you and your provider make sense of what the results mean — and what comes next.

Learn more about Labcorp's preconception and prenatal screening options.