Why I Got a Carrier Screening Test Before Trying to Conceive (2025)

My dad tells me that my Uncle Andy was the greatest of kids. He was always smiling, had the vocabulary and sharpness of a literary maestro, and loved exploring. He also never complained a day in his life— no easy feat for any child, let alone one who was born with cystic fibrosis that made the mere act of breathing a Herculean feat. He never made it to his fourth birthday.

Thanks to incredible medical advances, people with cystic fibrosis can now live long and relatively normal lives. Still, when my husband and I were ready to start our own family, I wanted to know if there was any chance of passing the genetic disorder on to our own child. Instead of waiting to screen my genes once already pregnant, I scheduled apreconception visit with my OB/GYN to learn more about my options while still trying to conceive. Many women may not know this is something you can do, but it is fairly easy, and I'm so happy I ended up going through with it.

What are preconception carrier screenings?

In short, genes give our cells instructions so that our bodies work properly. Humans have two copies of every gene —one inherited from the egg cell and one from the sperm cell, explains Teresa Cacchione, a genetic counselor in New York City. “If a gene is no longer working properly due to mutations (harmful changes) within that gene, a genetic condition may result." A genetic carrier screening is a test used to assess the risk of passing on a mutation to your offspring, she adds.

Many couples know about genetic screening options during pregnancy. In your first trimester, your doctor may do noninvasive prenatal testing (NIPT), a blood test that looks for certain chromosomal abnormalities. If the results show the baby has a risk of a genetic or chromosome disorder, you could plan for any necessary interventions to support birth and your baby's quality of life.

Preconception carrier screenings, on the other hand, look at the genetics of each partner before a pregnancy occurs. “Carriers are individuals who only have one working copy of a gene and are (in most cases) asymptomatic because the working copy still provides the body with everything it needs,” she says. If you're seeing a reproductive endocrinologist for fertility treatments, these screenings are usually a common practice, but if you're not seeing a fertility specialist, this option may not be standard unless you ask your provider.

Seeking peace of mind or an action plan

As an anxious person, I was terrified about what this preconception screening would reveal. Thankfully, my doctor immediately put me at ease: Yes, there was a chance I could be a carrier of the gene mutation for CF, but in order for our baby to have the disease, my husband would need to have the gene mutation, too. Even if we both had the mutation, she reassured me, there was only a 25% chance our child would have the condition (in this scenario, there’s also a 50% chance they wouldn’t be afflicted with the disorder but would be a CF carrier only). Plus, she told me, if we did find out we both were CF carriers, we had options like IVF, where we could implant the embryos that do not test positive for the condition. I knew these tests wouldn't show me every single thing, and that there was still a risk of our future baby having a health condition or random anomaly of some sort, but it gave me peace of mind that I was doing what I could to know as much as I could.

After discussing a few more questions, I headed to LabCorp to take the test my doctor recommended, the Beacon 427 Expanded Carrier Screening, which along with cystic fibrosis, tests for more than 400 other genetic conditions.

The test itself was a breeze

Two flights downstairs later, I rolled up my sleeve for the blood draw. I can’t say I love getting my blood taken, but it wasn’t any more painful than normal, and it took all of two minutes to complete.

Given my family history, I was mainly concerned about being a CF carrier. I wasn’t as nervous about the others and took solace in the parting words of my OB/GYN: Unless your partner is a carrier for the exact same conditions as you are, you don’t need to worry.

Something else to keep in mind though, is that these tests aren't covered by all insurances, especially before you get pregnant. To find out if the test is covered, call your insurance company to ask. If it is not, you may have other options like alternative tests from OTC companies such as Invitae that have a flat price, regardless of insurance. If you have an HSA or FSA account, you can generally use these funds to cover the costs of genetic carrier screening.

I was pretty anxious waiting for my results, which took about two weeks to come in. If I was a carrier for the CF mutation or any other genetic condition, my husband would need to get his bloodwork done as well. My mind was a flurry of what-ifs. If we both had the CF carrier gene or shared another genetic mutation, would IVF work? Would it cost us thousands of dollars?

It turns out that I screened negative for all the 400-plus conditions on the carrier screening so my husband never had to get tested. Of course, testing negative isn't a guarantee for a healthy baby — these tests don’t look for every disease and some conditions occur randomly. But in my case, it seemed that cystic fibrosis was not likely to be passed down to my future children.

Depending on your family history, a preconception carrier screening might be a good idea

All major health organizations, including the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists and the American Society for Reproductive Medicine support getting a genetic carrier screening before planning a pregnancy. If you're considering getting screened yourself, Caccchione shares some tips:

• Consider your timeline: It usually makes sense for the mom to be the primary person tested first, but if you're in a time crunch, you can both be tested at the same time. Just keep in mind the tests take about two to three weeks to get results and if you test both at the same time, it may cost more (and might not be necessary).

• Talk to the right provider: It's best to get the testing done through your healthcare provider. Any of your normal providers like your OB/GYN, MFM, reproductive endocrinologist or primary care physician can order the lab work, which will be much more comprehensive and accurate than anything you can do at home.

• Weigh the pros and cons of carrier screening for you and your partner: You'll want to find out how much it costs since it will not be covered by all insurance providers. And keep in mind that it doesn't account for every possible genetic or sex-linked disorder so it's important to learn what yours does look for— and what it doesn't.

• Remember that just because you're a carrier doesn't mean your baby will have the disease: Your doctor is likely only going to be concerned if there is overlap between what you and your partner (or egg/sperm donor) test positive for. Plus, even if there is an at-risk finding, some conditions may manifest as mild forms so it's important to discuss your findings with a genetic counselor.

Ultimately, you'll want to decide if this test is right for you and your family. It's not for everyone and that's okay! Given my family history, I’m forever grateful I took the important step of learning my carrier status before becoming pregnant, and I can’t wait for the day when I can take my son to “Andy’s Pond” (or at least that's what my family calls it!) in Central Park and tell him all about the brave kid whose namesake and spirit I hope he will always carry.