What is genetic testing?
It’s probably been awhile since your last biology class, so let’s get you up to speed. Your genes function like a roadmap by providing instructions to tell your body how to grow, function, and repair itself. Everybody has two copies of tens of thousands of genes, and some of these genes have changes called variants.
Some variants can be harmful and cause genetic conditions, but other variants do not. Carrier screening looks for conditions that are passed down because one or both parents share a recessive trait. For these conditions, people with one normal copy of a gene and one copy that has a condition-causing variant are called “carriers.”
Genetic testing, specifically carrier screening, looks for these condition-causing variants in both you and your partner’s genes that together could increase your risk of having a child with a genetic condition.
Why would I get it?
People often show no signs of being carriers and have no idea that they might be at risk to have a child with a genetic condition. This is actually the whole reason why this testing was developed in the first place! In fact, 80% of children born with a genetic disease have parents with no known history of a genetic disease. Some people are more likely to be carriers of a specific condition than others, due to their family history or ethnic background, but it’s a good idea for every person who is trying to conceive to consider genetic testing.
Being a carrier of a genetic condition usually doesn’t affect your health, but it does mean that you have an increased chance of having a child with that genetic condition. The same is true in reverse – being a non-carrier of a genetic condition means your chances of having a child with that specific genetic condition are significantly reduced.
If you’re using Ovia, you’re probably invested in a happy and healthy future for your growing family. It’s easier to plan for a healthy pregnancy if you’re aware of what might lie ahead.
How can genetic testing help me plan a healthier pregnancy?
Carrier screening will determine whether you are a carrier or a non-carrier for each condition tested. Some tests, like Invitae carrier screening, test for 288 genetic conditions at once and give you a lot of valuable information from just a single DNA sample from your saliva—no blood test necessary. It’s the same test your healthcare provider would order.
If your results indicate that you have an increased risk of passing on a genetic condition, there are a lot of different ways for you to proceed with your family planning, including:
- Reviewing newborn screening in-depth with your OB and pediatrician
- Genetically screening embryos before pregnancy
- Using a sperm or egg donor who does not carry that genetic condition
- Continuing with family planning and pregnancy
- Testing the pregnancy via chorionic villus sampling (CVS) or amniocentesis
- Adopting a child
No matter your results, it can be great to talk about them with a professional. Access to genetic counseling with no extra charge is Included with Invitae’s carrier screening. Their specialists can help you understand your results in the context of medical and family history, discuss potential implications, and guide your next steps.
Tap below to learn more about Invitae carrier screening and counseling.
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