Preparing for pregnancy is an exciting and deeply personal journey. From optimizing your health and nutrition to discussing prenatal care plans, there’s a lot to think about as you take this next step. One important consideration that’s gaining more attention today is pre-pregnancy genetic testing, also known as carrier screening.

Genetic testing before pregnancy can help identify potential risks for inherited conditions, giving you and your partner the knowledge to make informed decisions about your family’s future. While this type of testing isn’t required, many patients find that the insight it provides brings peace of mind and empowers them to plan with confidence.

Let’s take a closer look at how carrier screening works, who should consider it, and what you can expect from the process.

What Is Carrier Screening?

Carrier screening is a simple test that looks for changes—or mutations—in your genes that could cause inherited health conditions. Every person has thousands of genes, and sometimes one of those genes carries a mutation. Most of the time, carriers are healthy and have no symptoms, because they have one working copy of the gene. However, if both parents carry a mutation for the same genetic condition, their child could be at higher risk of inheriting that condition.

Here’s how it works:

  • If both parents are carriers for the same condition, there’s typically a 25% chance that their child could be affected.
  • There’s also a 50% chance the child will be a carrier like the parents, and a 25% chance the child will inherit no mutations at all.

Carrier screening identifies whether you and/or your partner carry mutations for certain genetic disorders, such as cystic fibrosis, spinal muscular atrophy (SMA), sickle cell disease, or Tay-Sachs disease. With this information, you and your healthcare provider can make proactive, informed decisions about family planning and pregnancy care.

Why Consider Genetic Testing Before Pregnancy?

The main goal of genetic testing isn’t to create fear; it’s to provide clarity and choice. By understanding your genetic makeup, you gain insight into potential risks before conception, rather than discovering them during pregnancy. This early knowledge allows time for thoughtful discussion, planning, and, if needed, exploring other reproductive options.

Genetic testing can:

  • Help identify carriers for inherited conditions that may not be evident from family history.
  • Empower couples to make informed choices about conception and pregnancy management.
  • Reduce anxiety through early awareness and professional support.
  • Provide valuable information for relatives who might share similar risks.

Who Should Consider Genetic Testing?

In the past, genetic testing was primarily recommended for couples with a known family history of genetic disorders or for those from specific ethnic backgrounds associated with higher risks. Today, however, the American College of Obstetricians and Gynecologists (ACOG) and other medical organizations recommend that anyone planning a pregnancy or already pregnant be offered carrier screening.

Here are some groups who may especially benefit:

1. Couples Planning a Pregnancy

Preconception carrier screening gives couples the chance to understand their shared genetic risks before becoming pregnant. This proactive step means that, if both partners are carriers for the same condition, you can explore options such as in vitro fertilization (IVF) with genetic testing, use of donor sperm or eggs, or prenatal screening once pregnancy occurs.

2. Individuals or Couples with a Family History of Genetic Disorders

If you or your partner has relatives affected by an inherited condition—such as cystic fibrosis, muscular dystrophy, or fragile X syndrome—genetic testing can determine whether you carry the same genetic change. Even if the condition hasn’t appeared for several generations, mutations can still be passed silently through families.

3. People from Certain Ethnic Backgrounds

Some genetic conditions are more common in certain ethnic groups. For example:

  • Ashkenazi Jewish individuals may be at higher risk for Tay-Sachs disease and Gaucher disease.
  • African or Mediterranean ancestry is associated with sickle cell disease and thalassemia.
  • Southeast Asian or Chinese ancestry can carry higher risks for alpha thalassemia.
    While ethnicity-based screening was once the standard, many healthcare providers now offer expanded carrier screening, which tests for hundreds of conditions across all ethnicities. This broader approach ensures that everyone has access to the same information, regardless of background.

4. Couples Who Have Experienced Recurrent Miscarriage or Unexplained Infertility

Sometimes genetic factors contribute to repeated pregnancy loss or difficulty conceiving. Carrier screening may uncover chromosomal abnormalities or gene mutations that help explain these challenges and guide next steps with your fertility specialist or OB/GYN.

5. Individuals Using Donor Eggs or Sperm

If you plan to conceive using a donor egg or sperm, genetic screening is typically recommended for both the donor and the recipient. This ensures that both parties are not carriers for the same conditions, helping reduce the risk of passing on an inherited disorder.

6. Anyone Who Simply Wants More Information

You don’t need a specific risk factor or medical history to choose genetic testing. Many couples pursue carrier screening for the peace of mind that comes from knowing their genetic background before pregnancy.

How the Testing Works

Carrier screening is simple, quick, and noninvasive. It typically involves a blood draw, which is sent to a specialized laboratory for analysis.

You can choose to test:

  • Individually: One partner is tested first. If they’re found to be a carrier, the other partner can be tested for the same condition.
  • Together: Both partners are tested at once for a broad panel of genetic conditions.

Your provider will review the results with you, explaining what they mean and what steps—if any—you may wish to take next. Results usually take a few weeks.

Understanding Your Results

If your results show that you are not a carrier, no further action is needed for those specific conditions. However, no test can screen for every possible genetic condition, so results are always interpreted within context.

If you are a carrier, it doesn’t mean your child will have a genetic condition. It simply indicates a potential risk if your partner is also a carrier for the same gene. In that case, your OB/GYN may recommend:

  • Testing your partner (if not already done).
  • Genetic counseling to discuss your results in detail.
  • Exploring reproductive options, such as IVF with preimplantation genetic testing, using donor material, or prenatal screening during pregnancy.

Genetic counselors are trained to help you understand complex information and make decisions that align with your values, beliefs, and goals.

The Power of Knowledge

Genetic testing isn’t about predicting your future. It’s about understanding your options. By learning more about your genetic background, you can take control of your reproductive journey and plan with greater peace of mind.

At CT Coastal OB/GYN, we believe that informed patients make empowered choices. Our providers offer compassionate, personalized guidance through every step of your family planning process. Whether you’re just beginning to think about pregnancy or are ready to take the next step, we can help you understand your genetic testing options and what they could mean for you and your future family.