Deciding to become a parent is a milestone moment for a reason. You're bringing new life into the world and getting ready for all the joyful ups and downs that come with it.
If you or your partner are preparing for pregnancy, getting a genetic carrier screening is one of the most important things to consider (aside from picking a name and where to put the crib).
Whether you have a family history of genetic conditions, a screening can give you a clear snapshot of your options. If you want to go into your pregnancy with confidence and peace of mind, an at-home carrier screening is one of the most powerful tools you can use.
And here's why.
Many of us know or have heard of someone born with a genetic condition. A baby's diagnosis of a genetic condition can come as a big shock, mainly because 90% of babies born with a genetic condition do not have a family history.
Naturally, when someone hears this statistic, it's followed up by an important question- how can I know if my baby might be born with a serious, inherited genetic condition? Thankfully, the answer is straightforward. People planning a pregnancy can do a genetic carrier screening test.
A genetic carrier screening test looks at both reproductive partners' genes to see if they carry a genetic condition.
Until recently, this type of medical-grade genetic testing hasn't been accessible to most of us, but Eugene is here to change that.
At Eugene, we offer genetic testing and end-to-end counselling support for individuals, couples and donors. We have two types of genetic carrier testing: Our Expanded panel screens for 268 recessive conditions and 21 X-linked conditions, and our Comprehensive panel for more than 500 conditions.
You may be surprised to hear that around 7 out of 10 people who have screening with Eugene learn they're carriers of at least one genetic condition. This means that those 7 people have a change in their DNA, increasing the chance of having a child born with an inherited condition. At first, hearing this information can sound troublesome, but rest assured; this result is no cause for concern!
About 1 in 40 couples who have a carrier screening test learn that both members of the couple carry the same genetic condition or the female carries an X-linked condition.
What are the common conditions screened for:
All conditions on Eugene's carrier screening test are serious conditions that can impact a child's life expectancy or development.
Couples that carry the same genetic condition, or females that are carriers of an X-linked condition, learn that with each pregnancy, they have a 25% or greater chance of having a child together affected by the condition. Knowing this information comes with options.
For these couples, they may be able to:
On the one hand, learning as a couple that the chance of having a child together affected by a genetic condition is low can be reassuring to hear. On the other hand, a result that shows a child is at an increased risk for being affected by a condition can be challenging information to learn but can also provide options before and during pregnancy.
With your genetic counsellor at Eugene by your side - you can get clear on your options if you carry a gene variant and help you figure out the best pathway for you.
Undoubtedly, doing a carrier screening test before pregnancy, or in the first trimester, is an essential part of the pregnancy journey.
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