Deciding to start a family is an exciting, joyous occasion- congratulations! For some people, we hear that it can become overwhelming as they learn how to navigate numerous tests and offerings of advice. Understanding your options available pre-pregnancy can be particularly tricky; don’t worry, we're here to help.
Many of us know or have heard, of someone that’s been born with a genetic condition. A baby’s diagnosis of a genetic condition can come as a big shock, largely because 90% of babies born with a genetic condition do not have a family history of it.
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 agenetic carrier screening test.
A genetic carrier screening test looks at both reproductive partners’ genes to see if they carry a genetic condition. Eugene is a Melbourne-based company that provides carrier screening tests for individuals, couples, and donors, and screens for more than 260 conditions in males and females, plus over 20 additional X-linked conditions in females.
You may be surprised to hear that around 7 out of every 10 people that have screening with Eugene learn they’re a carrier of at least one genetic condition. This means these people have a change in their DNA that increased 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! Carriers are healthy and do not have, or develop, symptoms of the related condition.
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 a X-linked condition. Some common conditions that are screened as a part of the Eugene carrier screening test include:
Cystic Fibrosis: A condition that 1 out of every 45 people carry. Cystic Fibrosis can cause someone to have lung damage, challenges absorbing nutrients from food, difficulty maintaining a healthy weight, and changes in the amount of salt lost through the body.
Thalassaemia: A condition that 1 in every 25 people carry. Thalassaemia affects how red blood cells are made. Symptoms of thalassaemia include a shortage of red blood cells, pale skin, weakness, and fatigue. More serious forms of the condition can also affect the function of the liver, heart, spleen, and bones.
1 in 49 people are carriers ofSpinal Muscular Atrophy. This condition affects how messages are sent from the brain to the muscles. This can affect how someone sits, crawls, walks, swallows, and in very serious cases, how someone breathes.
All conditions on the Eugene 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. With knowing this information comes options. For these couples, they may be able to:
Use IVF technology to avoid having a child affected by a severe condition.
Have a test during pregnancy to see if the baby has the condition and make informed pregnancy choices.
Use a donor egg, sperm, or embryo that does not carry the same genetic condition.
Adopt or foster a child.
Conceive naturally and use the information from a carrier screening test to prepare for the baby’s birth.
On 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. In all cases, a genetic counsellor at Eugene will help you make sense of your genetic screening test result and be there to help you feel confident and empowered in making proactive pregnancy decisions right for you.
There’s no doubt that doing a carrier screening test before pregnancy, or in the first trimester, is an important part of the pregnancy journey.