Genetic carrier screening is an optional pregnancy test that screens for certain genetic conditions. It tells you if you’re a carrier of any of those conditions, and the report you receive contains medical terminology, percentages, and references to genetic conditions you might not be familiar with.
It’s normal to feel anxious about what these results say about your baby’s health and your own genetics. You might be tempted to search the internet for answers. Still, the reality is that genetic screening results require professional interpretation, and our team at OB-GYN Associates of Marietta has the expertise to help you understand what your results really mean.
Here’s what you should know.
Genetic carrier screening tests whether you carry genes for certain inherited conditions. Being a carrier means you have one copy of a gene mutation but typically don’t have the condition yourself. If you’re a carrier and your partner is also a carrier, there’s a possibility your baby could inherit two copies of the mutation and develop the condition.
At OB-GYN Associates of Marietta, we use Natera™ Horizon genetic carrier screening, which tests for hundreds of genetic conditions in one single test. We take a blood or saliva sample, then send it to a lab. Once we receive your genetic carrier screening results from the lab, we share them with you.
It’s normal to feel unsure when you receive your results. Your results might show you’re not a carrier for any of the genetic conditions Horizon screens for —this is the most common outcome. It means your risk of passing on those specific genetic conditions is very low.
Your results might show that you’re a carrier for one or more conditions, but it’s important to understand that this doesn’t automatically mean that your baby has the condition. It means you carry a gene for that condition, and whether your baby is affected depends on whether your partner is also a carrier. If both of you are carriers, your baby can inherit the mutation from both parents.
Your results might show you have a genetic condition yourself, not just carrier status. This may require a more detailed discussion about what it means for your health and your pregnancy, and we may refer you to a specialist for additional support.
Some results might be unclear or require additional testing to clarify. Genetic testing sometimes identifies changes that might or might not be important, and these results need professional interpretation to determine their meaning.
This is a critical point: genetics are complex, and genetic screening results require professional interpretation from someone who understands genetics, understands your specific situation, and can explain what the results mean for you and your pregnancy.
Internet research often amplifies anxiety because online information lacks context. A genetic condition that’s serious in some circumstances might be manageable in others. Carrier status that requires attention in your situation might be irrelevant based on your partner’s genetics. Results that sound alarming might actually pose minimal risk based on inheritance patterns.
Our team at OB-GYN Associates of Marietta is trained to interpret genetic screening results, and we’re here to help you understand how your results apply to your specific situation and pregnancy. We can explain what your results mean, what your options are, and what follow-up we might recommend.
When you get your screening results, don’t panic or assume worst-case scenarios. If you don’t already have one scheduled, book an appointment to discuss your results. Come prepared with questions. Bring your partner if possible, as results might affect both of you.
We might recommend additional testing like a detailed ultrasound, diagnostic testing like amniocentesis, genetic counseling with a specialist, or simply reassurance that your results don’t change your pregnancy management. If you’re a carrier and your partner hasn’t been screened, we might recommend getting screened to determine his carrier status and assess your baby’s actual risk.
Genetic screening provides valuable information, but information means nothing without proper interpretation. We’re here to help you understand your results, discuss what they mean for your pregnancy, and determine what steps, if any, are appropriate. Contact us to schedule an appointment and start getting your questions answered.
