So your OB just dropped the words "genetic counseling" into your appointment, and now you're sitting in the parking lot Googling what that means. First, take a deep breath. Getting a referral for genetic counseling is far more common than most people realize, and it absolutely does not mean something is wrong with your pregnancy.
Genetic counseling is, at its core, a conversation. It's a session with a specially trained healthcare professional who helps you understand your personal risk for certain genetic conditions and walks you through the testing options available to you. Think of it as a personalized information session, not a verdict on the health of your baby.
What is genetic counseling (and why you just got referred)
Here's what's really important to understand: genetic counseling is not reserved for "high-risk" pregnancies. Many OBs now refer patients routinely, recognizing that everyone benefits from having clear, accurate information about their options. During a typical session, which usually lasts 30 to 60 minutes and is often available virtually, your counselor will review your family history, assess your individual risk factors, and explain what testing can and can't tell you.
The keyword here is informational. A genetic counselor will never push you toward a specific decision. They will lay out the facts, answer your questions, and support whatever choice you make. You are still entirely in the driver's seat.
But according to Jacqueline Pierre-Louis, MSc, (L)CGC, CCGC, Lead Fertility Genetic Counselor & Communications Liaison at GeneScreen, even a "normal" result isn't always the end of the conversation. "A low-risk NIPT or a negative expanded carrier screen doesn't mean there's nothing more to discuss," she says. "Genetic counseling is really about context — helping people understand what a test can and cannot tell them, what residual risk may still exist, and whether family history or other factors might still matter."
Common reasons your doctor referred you for genetic counseling
There's a long list of reasons an OB might recommend genetic counseling, and most of them are pretty routine. Here are the most common:
Advanced maternal age (35+): Yes, the medical world still uses this term, even though plenty of women having babies after 35 would prefer they didn't. The reality is that the chance of certain chromosomal conditions does increase with age, so a referral is often standard practice.
Abnormal NIPT or screening results: If a screening test came back flagged, your doctor wants to make sure you have expert guidance on what those results actually mean (more on that below).
Family history of genetic conditions or birth defects: If anyone in your family or your partner's family has a known genetic condition, a counselor can help you understand what that means for your baby.
Previous pregnancy loss or a baby with a genetic condition: A counselor can help identify whether a genetic factor may have played a role and what it means going forward.
Known carrier status: If you already know you're a carrier for a condition like cystic fibrosis or sickle cell disease, counseling helps you understand the implications.
Ethnic background associated with certain conditions: Some genetic conditions are more prevalent in specific populations.
IVF or use of donor eggs/sperm: Assisted reproduction often includes a genetic counseling component to review genetic testing options available with IVF.
The bottom line: a referral is a proactive step, not a red flag. Your doctor is making sure you have access to the best information available.
What "abnormal NIPT" actually means (and why you're not spiraling alone)
If you're reading this because you just got an abnormal NIPT result, let's start here: NIPT is a screening test, not a diagnostic test. That distinction matters enormously. A screening test tells you there may be a higher probability of a certain condition. It does not confirm anything.
Pierre-Louis addresses this directly with patients who call her in a panic. "A key misconception I address right away is that an abnormal NIPT result is a diagnosis," she says. "NIPT is a highly effective screening test, but it's based on placental cell-free DNA and statistical risk assessment, so an abnormal result reflects an increased likelihood of a condition rather than confirmation that it is present in the pregnancy."
A 2022 meta-analysis published in Molecular Cytogenetics that re-evaluated over 750,000 NIPT results found a 27:1 ratio of false-positive to false-negative results. In plain language, NIPT is far more likely to incorrectly flag something than to miss it. False positives happen for several reasons: placental mosaicism, vanishing twins, or simply the statistical limitations of screening for rarer conditions.
An abnormal result means the next step is usually a conversation with a genetic counselor about whether diagnostic testing makes sense for you. "An abnormal screen doesn't mean they have to pursue further testing," Pierre-Louis notes, "but it does open up options, and my role is to help walk them through what those next steps could look like so they can make a decision that feels right for them." It does not mean a diagnosis. And the anxiety you're feeling right now? Completely, utterly normal. You're not overreacting. You're processing, and that's okay.
What to expect during your genetic counseling session
Walking into any medical appointment is easier when you know what's coming. Here's a general roadmap of what a genetic counseling session looks like:
Your counselor will start by reviewing your medical history, your partner's medical history, and your family's health going back about three generations. Pierre-Louis notes that patients often tell her they wish they'd known this in advance, so they could have gathered that information or had those conversations before walking in. She also says patients are often surprised by how reassuring the visit feels once they're actually in it. Just share what you know, and it's perfectly fine to have gaps — your counselor will put together a personalized risk assessment from whatever you're able to share.
Then comes the discussion of testing options. Your counselor will walk you through what's available, what each test can and can't tell you, and the benefits versus risks of each option. This is your time to ask every question on your mind; no question is too small or too obvious.
A few things worth knowing:
There's no pressure to make any decisions during the session. You can take time to think, talk with your partner, and circle back.
You can bring your partner, a family member, a friend, or come on your own, whatever feels most comfortable.
Prepare questions in advance and bring any relevant medical records or prior test results.
Board-certified genetic counselors, like those at GeneScreen, specialize in prenatal genetics and work directly with your OB/GYN to coordinate your care seamlessly.
Questions Women Are Asking
Types of genetic testing during pregnancy
Genetic testing during pregnancy falls into a few categories, and understanding the differences helps you make choices that feel right.
Carrier testing determines whether you (and, if applicable, your partner) carry a gene for a condition you could pass to your baby. This can be done before or during pregnancy and involves a simple blood test or saliva sample.
Non-invasive prenatal testing (NIPT) is a blood draw from the pregnant person that analyzes fragments of the baby's DNA circulating in the mother's bloodstream. It screens for common chromosomal conditions like Down syndrome (trisomy 21), trisomy 18, and trisomy 13, and can also reveal the baby's sex. NIPT is typically offered after 10 weeks of pregnancy and has high sensitivity for common trisomies, but remember, it is a screening tool, not a definitive diagnosis.
Diagnostic testing includes amniocentesis and chorionic villus sampling (CVS). These are the tests that can actually confirm or rule out a chromosomal condition. CVS is typically performed between 10 and 13 weeks, while amniocentesis is done after 15 weeks. According to a 2019 systematic review and meta-analysis published in Ultrasound in Obstetrics & Gynecology that analyzed over 63,700 amniocentesis procedures, the procedure-related risk of pregnancy loss is lower than traditionally thought, and appears negligible when compared to control groups with the same risk profile. Your genetic counselor can walk you through the current data so you can weigh the risks and benefits with accurate, up-to-date information.
Genetic disease carrier testing explained
Being a "carrier" means you have one copy of a gene variant for a certain condition but don't actually have the condition yourself. Most carriers have no symptoms and no idea they carry the gene until they're tested.
Common conditions screened in carrier testing include cystic fibrosis, sickle cell disease, Tay-Sachs disease, and spinal muscular atrophy. The American College of Obstetricians and Gynecologists (ACOG) recommends that all patients considering pregnancy be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as screening for thalassemias and hemoglobinopathies. With expanded carrier panels now screening for hundreds of conditions, ACOG notes that "the large number of disorders being screened may result in more than one half of patients being found to be carriers for one or more disorders."
This is why both partners should ideally be tested. Pierre-Louis points out something that surprises a lot of couples: "When both partners are identified as carriers for the same condition, it's very common for patients to say, 'We don't have anyone in our family affected' — but with recessive conditions, family history is often not present, even when both partners are carriers." If both partners carry the same gene variant, there's typically a 25% chance with each pregnancy that the baby will have the condition — and each pregnancy is independent of the last. A genetic counselor helps you understand exactly what your results mean and what your options are, which can include additional prenatal testing, planning for specialized care at birth, or considering other reproductive options.
Making decisions that feel right for you
Here's something that gets lost in all the medical terminology: there is no universally "right" answer when it comes to genetic testing during pregnancy. Only what's right for your family.
Religious beliefs, cultural values, personal philosophy, and individual circumstances all factor into these decisions, and every single one of those influences is valid. Some people want every piece of information available. Others prefer to decline testing entirely. Many fall somewhere in between, choosing some tests but not others.
All of these are legitimate choices. The goal of genetic counseling isn't to steer you toward testing; it's to make sure that whatever you decide, you're making an informed decision with the full picture in front of you.
Beyond pregnancy: when genetic counseling addresses broader health
Pregnancy can be a surprising gateway to learning about your own genetic health. Many people discover during prenatal counseling that their family history warrants further exploration — not just for the baby, but for themselves.
If your family has a history of breast, ovarian, or colon cancer, a genetic counselor can help you understand whether hereditary cancer screening (like BRCA testing) is recommended. Some counselors also address cardiogenetics and neurogenetics for families with relevant histories of heart conditions or neurological disorders.
Some genetic counseling services offer comprehensive counseling across multiple specialties, not just prenatal. So if your pregnancy opens the door to questions about your own health risks, that's a conversation worth having.
Questions to ask your genetic counselor
Going in prepared can help you feel more in control. Here are some questions worth bringing to your session:
What specific genetic conditions am I at increased risk for based on my history?
What are my testing options, and what will each test tell me?
What are the risks associated with diagnostic testing, such as amniocentesis or CVS?
How accurate are these tests, and what are their limitations?
What would a positive result mean for my pregnancy and my baby?
What does insurance typically cover for genetic testing and counseling?
What support resources are available if we receive an unexpected result?
Your genetic counseling appointment doesn't define your pregnancy
If there's one thing to take away from all of this, let it be this: a referral to genetic counseling is an act of good care, not a cause for alarm. It means your healthcare provider wants you to have access to expert-level information and support. That's a good thing.
The vast majority of people who go through genetic counseling during pregnancy go on to have healthy babies. And for those who do receive unexpected news, having that information early means more time to prepare, plan, and make decisions that align with their values.
If you need a genetic counselor, services like GeneScreen can connect you with board-certified specialists who are available in all 50 states, many offering virtual appointments that fit into your schedule. Taking this step doesn't mean something is wrong. It means you're showing up for yourself and your baby with the most powerful tool available: information.
