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10 Myths About Reproductive Carrier Screening - Busted

10 Myths About Reproductive Carrier Screening - Busted

Think you know reproductive carrier screening?

Many people have heard of it - but the truth is, there’s a surprising amount of misinformation out there. These misconceptions can hold you back from understanding your options and taking control of your reproductive health.

Reproductive carrier screening (RCS) can uncover whether you or your partner carry gene variants that could affect your child’s health. Our most comprehensive test screens for more than 780 serious genetic conditions - and your results give you clinically actionable insights to support you in your family planning journey.

Here are 10 of the most common myths we hear - and the truth behind them.

Myth 1: “Genetic testing is only useful if you are pregnant”

Whilst carrier screening before pregnancy offers the most opportunity for informed decision making, we still recommend testing in the early stages of your pregnancy. Around 1 in 40 couples have an increased-risk pregnancy, and early results can open up important testing options. Timing is critical in this case and acting quickly ensures you’re in the best position to make confident and empowered choices.

Myth 2: “Both parents need to be a carrier for a condition to be passed down”

For many inherited conditions - yes, both partners need to carry a variant in the same gene for there to be a risk of passing it on.

But not always! Some genetic conditions can be passed on even if only one person is a carrier. This includes conditions with different inheritance patterns, like X-linked conditions, which can be passed from the female to her children. That’s why carrier screening is important for everyone - regardless of gender or family history.

Myth 3: “Being a ‘carrier’ means that you have the condition”

Being a carrier means you have a change in the DNA code of one of your genes, however, being a carrier doesn’t typically affect your own health. Thats because when it comes to recessive genes you have 2 copies, the one that has the expected code dominates of the one with variation. Thats why, most carriers are healthy and don’t have symptoms or other signs that they are a carrier.

However, there’s a 50% chance you could pass this gene change on to your children. Knowing your reproductive partner’s carrier status helps clarify whether there’s an increased risk or not. If both parents carry the same condition, each child has a 25% chance of inheriting both changes and being affected.

Myth 4: “Carrier screening can only be done through a blood test”

At Eugene our carrier screening tests are carried out with a simple at-home cheek swab, with no blood tests or needles required. Thats because we believe that everyone should be able to access medical grade genetic care from the privacy of their home. Whether you live in the heart of the city or on a remote farm, we’re here to support you.

Myth 5: “Genetic testing is a long and expensive process.”

Our at-home swab test is quick and easy to complete, with most results ready within 4 weeks after the sample reaches our lab.

Costs vary depending on the test you choose:

Generally, the larger the test, the more information you receive - and more information means greater power to make informed choices. For example, the basic 3-gene test (Core) identifies about 20% of couples at risk of having a child with an inherited genetic condition. The comprehensive test will identify 90% of couple at-risk.

Myth 6: “No one in my family has a genetic condition – so I’m not at risk”

Most people who are carriers of a genetic condition have no family history of it. That’s because carriers are usually healthy and often don’t know they have a gene change. The only way to know your carrier status is through testing. In fact according to ACOG (2017), 9 out of 10 babies born with a genetic condition are born to families with no known history.

Myth 7: “I already have a healthy baby, so we’re not at risk”

Having a healthy child doesn’t rule out the possibility that you and your partner are carriers for the same condition. Each pregnancy has its own set of chances, so the outcome can vary from child to child. Carrier screening helps you understand your risk before future pregnancies so you can plan with confidence.

Myth 8: “My partner and I are from different countries/ethnicities/cultures”

Some genetic conditions are more common in certain backgrounds, but many occur across all ethnicities. Our most comprehensive carrier screening looks at hundreds of genes across all backgrounds, because relying on ethnicity alone can leave important risks undetected.

Myth 9: “If my partner and I are at high risk, there’s nothing we can do”

Knowing your risk opens up options - it doesn’t close doors. Depending on your results, you might consider early pregnancy testing using prenatal diagnostic techniques live Chorion Villus Sampling (CVS) and Amniocentesis. IVF with genetic testing, using a donor, or other pathways to parenthood. The goal is to give you information before or early in pregnancy so you can make the choice that’s right for you.

Myth 10: “I’ve done NIPT so I already know I’m not at risk”

NIPT (Non-Invasive Prenatal Testing) looks for common chromosome changes like Down syndrome, but it doesn’t screen for the hundreds of single-gene conditions covered by carrier screening. These are two different types of testing - NIPT tells you about your current pregnancy, while carrier screening helps identify inherited risks that can be passed on in any pregnancy.

Take the next step in your families journey with confidence

Reproductive carrier screening is recommended for anyone planning a pregnancy or in their first trimester. Our easy at-home tests, personalised counselling, and Medicare-covered options give you the insights to make empowered choices.

Ready to get started? Explore your options here.

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