Preconception Genetic Testing: What Every Couple Should Know

Understand the importance of preconception genetic testing and carrier screening to identify potential risks for your future children.

pre-pregnancy Dr. James A. Gohar MD, FACOG 8 min read
Identifying inherited risks as part of preconception family planning

TL;DR

Preconception genetic testing, also known as carrier screening, is a blood or saliva test that identifies if you or your partner carry gene mutations for certain inherited conditions like Cystic Fibrosis or Sickle Cell Anemia. Testing before pregnancy allows you to understand your risks and explore all available reproductive options.

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Important

If you or your partner have a known family history of a genetic disorder, we recommend scheduling a preconception consultation with our team to discuss targeted testing options.

In This Article

What Is Preconception Genetic Testing?

Preconception genetic testing (carrier screening) is a screening process used to determine if a couple carries genetic mutations that could be passed on to their biological children, even if neither parent shows symptoms of a disorder.

Most people are 'carriers' for at least one or two recessive genetic conditions. Being a carrier means you have one mutated copy of a gene and one normal copy. Because you have a healthy copy, you don't have the condition yourself and likely have no idea the mutation exists in your DNA. However, if both biological parents are carriers for the same condition, there is a chance their child could inherit two mutated genes and be born with the disorder.\n\nAt Viva Eve, we believe that information is empowering. By performing these tests before you conceive, we can identify these risks early. This allows you to walk into pregnancy with a clear understanding of your genetic profile. It's not about 'perfect' genes—it's about ensuring you have the data you need to make the best decisions for your future family.

Why Should We Consider Carrier Screening Before Pregnancy?

Screening before pregnancy provides you with the most time and options to make informed decisions about your reproductive journey, including the use of prenatal diagnosis or assisted reproductive technologies.

While carrier screening can be done during pregnancy, doing it beforehand is the clinical gold standard. If you wait until you are already pregnant, your options are more limited and the timeline for making decisions is much tighter. Screening during the first trimester often involves a high-stress wait for results while you are already navigating the physical changes of early pregnancy.\n\nBy testing during the preconception phase, you have the luxury of time. You can speak with genetic counselors, research specific conditions, and consider all available paths. For many of our patients at Viva Eve, this peace of mind is invaluable. It transforms a potential 'what if' into a manageable part of your family planning process.

Which Genetic Conditions Are Commonly Screened?

Standard carrier screening typically includes tests for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Sickle Cell Disease, along with other conditions based on your ethnic background.

In the past, testing was often limited to a few conditions based on a person's heritage (for example, screening for Tay-Sachs disease in those of Ashkenazi Jewish descent). Today, we typically offer 'expanded carrier screening.' These panels can screen for hundreds of different genetic conditions regardless of your ethnicity. This is particularly important in our diverse New York City community, where many families have multi-ethnic backgrounds.\n\nCommon conditions on these panels include Fragile X syndrome, which is the most common cause of inherited intellectual disability, and various types of thalassemia. Our team will help you decide which panel is right for you—whether you want a focused screen for the most common disorders or a more comprehensive look at your genetic landscape.

How Is the Genetic Testing Performed?

The testing process is simple and non-invasive, requiring only a single blood draw or a saliva sample from one or both partners.

At our Forest Hills and Midtown East locations, we make the testing process as seamless as possible. You don't need to fast or do any special preparation. During your preconception visit, we will discuss the options and, if you choose to proceed, collect the sample right then and there.\n\nWe work with leading genetic laboratories that specialize in high-accuracy screening. Once the sample is sent off, the DNA is analyzed for specific mutations. Results are usually available within 14 to 21 days. We will then schedule a follow-up—either in person or via telehealth—to review the findings in detail. We ensure that you're never just getting a lab report; you're getting an expert interpretation of what that report means for you.
Both saliva and blood samples are equally accurate for genetic testing. If you have a phobia of needles, just let us know, and we can provide a saliva collection kit instead.

What Do the Test Results Mean for Our Family?

A negative result significantly reduces the chance of having a child with the screened conditions, while a positive result for both parents indicates a 25% chance of the condition appearing in each pregnancy.

It's important to understand that genetic screening is not a guarantee. Every test has a 'residual risk'—a very small chance that you could still be a carrier for a mutation that the test wasn't designed to find. However, a negative result is extremely reassuring and means the risk is significantly lower than in the general population.\n\nIf you are found to be a carrier for a condition and your partner is not, your children will not have the disease, though they have a 50% chance of being carriers themselves. If both you and your partner are carriers for the same autosomal recessive condition, there is a 25% (1 in 4) chance for each pregnancy to be affected. If this happens, our role at Viva Eve is to provide you with support, education, and a clear path forward.

What Are Our Options if We Are Both Carriers?

Couples who are both carriers for the same condition can choose natural conception with prenatal testing, or explore options like In Vitro Fertilization (IVF) with Preimplantation Genetic Testing (PGT).

Finding out you are both carriers is not the end of your dream of having a family; it is simply a change in the roadmap. Many couples choose to proceed with natural conception and use prenatal diagnostic tests like Chorionic Villus Sampling (CVS) or amniocentesis during pregnancy to see if the baby is affected.\n\nOther couples choose to use In Vitro Fertilization (IVF). With IVF, we can use Preimplantation Genetic Testing for Monogenic disorders (PGT-M) to screen embryos for the specific condition before they are transferred to the uterus. This allows for the selection of embryos that are either non-carriers or carriers who will not have the disease. Other options include using a sperm or egg donor who is not a carrier, or exploring adoption. Whatever path you choose, the Viva Eve team will be by your side with compassion and expertise.

Frequently Asked Questions

Find quick answers to common questions about preconception genetic testing and how it helps you plan for a healthy pregnancy.

Common Questions

Frequently Asked Questions

No, testing is entirely optional. It is a tool available to help you make informed decisions. We offer it to all couples as part of a comprehensive preconception checkup, but the choice to proceed is always yours.

Genetic testing usually only needs to be done once in your lifetime, as your DNA does not change. However, if new, expanded panels have become available since your last test, you may want to discuss updated screening with your doctor to ensure you have the most current information.

While a negative result is very reassuring, it does not guarantee a healthy baby. Screening tests reduce the risk significantly but cannot eliminate it entirely, and they do not screen for all possible birth defects or genetic conditions.

This is often the fastest approach, known as 'concurrent' testing. Alternatively, you can do 'sequential' testing where the mother is tested first; if she is a carrier, the father is then tested for that specific condition. Concurrent testing is preferred if you are in a hurry to conceive.

Most results are returned within two to three weeks. Once the lab completes the analysis, we will schedule a follow-up appointment or call to go over the findings with you in detail and discuss any necessary next steps.

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