Pregnant or thinking about having a baby?

Despite popular belief, 80% of babies born with an inherited genetic condition have no family history of it. That’s why genetic carrier screening is relevant to all people who are planning a pregnancy or early in a pregnancy. Your family background or history can be important predictors in what gene variations you may carry – but its only a small part of the puzzle. While these conditions are rare, and most of us haven’t even heard of them – the combined risk of having a child with an inherited genetic condition is greater than the risk of having a child with Down syndrome.

Finally, these conditions won’t be detected by routine tests in early pregnancy like NIPT, CVS or Amnio. That’s why this test is relevant to everyone who is family planning or is currently pregnant.

Generally speaking, before or early in pregnancy. Many people consider their carrier status as important health information just before trying to get pregnant or early in their pregnancy to make informed reproductive choices for their family.

So in essence, before you’re pregnant or within the first 12 weeks of pregnancy is perfect timing.

The results of carrier screening can help you understand if you have a higher chance of having a child impacted by a genetic condition so that you can make empowered and informed reproductive choices.

• Your reproductive carrier screening test results may indicate that you are a healthy carrier of a genetic condition. Couples who are carriers of the same genetic condition, or females that are carriers of an X-linked condition, may learn that with each pregnancy, they have a 25% or greater chance of having a child together impacted by the condition. With knowing this information comes options. For these couples, they may be able to:
• Use IVF technology (preimplantation genetic testing) to reduce the chance of having a child impacted by a genetic condition.
• Have a test during pregnancy (CVS or amniocentesis) to see if the pregnancy is impacted by a genetic condition and make informed pregnancy choices.
• Conceive naturally and use the information from a carrier screening test to prepare for the baby’s birth.
• Use a donor egg, sperm, or embryo that does not carry the same genetic condition.
• Adopt or foster a child.

Eugene’s experienced genetic counsellors are here to provide the support you need to understand your results and explore the potential next steps, which may include preparing for the birth of a child at increased risk, prenatal diagnosis, IVF with preimplantation genetic testing, or other equally important options.

Core Carrier Screening includes Cystic fibrosis (CF), Spinal muscular atrophy (SMA) and Fragile X. These are three of the most common genetic disease that affect children in Australia. 1 in 20 people find out they are carriers of a condition on this test.

Our Comprehensive Carrier Screening option is much more inclusive to risks faced by everyone, because certain conditions are more common in different ethnicities — and its 2023, so most of us are more mixed than we think we are!

8 out of 10 people who do our comprehensive carrier screening test find out they are healthy carriers of at least one condition. Knowing this info in advance is really important because it can open up reproductive options and even significantly reduce the chance of passing the specific condition.

The purpose of genetic carrier screening is not to diagnose you with the conditions on the panel – rather to identify if you and your partner carry gene variations that, if passed on to a child, could result in them being affected by certain conditions.

So the implications are more likely to be related to difficult choices you may need to make regarding your pregnancy plans or management. But as they say, information is power. That being said, in rare cases, testing may reveal that you are more susceptible to some manageable adult onset conditions.

Many people who had had testing with Eugene describe feeling informed, empowered and aware and we believe that is as important as the results themselves.

Carrier screening is not used to identify personal risks, and is generally used by individuals planning a family to know their risk of passing on serious inherited disorders to their children. Life insurance companies generally use genetic test results that do identify personal risk in deciding whether or not to offer someone life insurance cover and at what premiums to do so.

Because of that, the risk of your carrier screening results affecting your ability to get life insurance or the premium you’re charged is very low.

Absolutely! Each test comes with a post test genetic counselling session. Your Eugene genetic counsellors are all trained and have practiced across a number of specialties in addition to carrier screening and together with our consultant geneticists and widespread network of healthcare professionals, we make sure you’re always connected and supported.

As a healthcare company, we comply with the most stringent local and international privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.

Finally, Eugene doesn’t share any your data with anyone but you and (with your express permission) your doctor.

For more information about how our partner labs store and use your data, see Fulgent's privacy policyand VCGS's privacy policy

Despite popular belief, 80% of babies born with an inherited genetic condition had no family history of it. That’s why the Eugene test is relevant regardless of your family background or history.