Why You Should Consider Genetic Carrier Screening | Adora Fertility

When you’re planning a pregnancy - either naturally or through fertility treatment such as IVF - you may be offered screening tests. Some look at your fertility, while others check your general health. And one test looks at something you may not have considered - your genetics.

It’s called genetic carrier screening. While it’s an optional test, many people choose to have it to find out if they unknowingly carry a condition, and what this might mean for future family planning.

In this blog, we explain why genetic carrier screening is offered, when it’s usually done, and how it can help you make informed decisions about your pregnancy, care, and journey to parenthood.

What is Genetic Carrier Screening?

Genetic carrier screening is a simple, non-invasive blood or saliva DNA test that can identify whether you carry certain genetic conditions.

You can’t tell whether you’re a genetic carrier based on your health, symptoms, or family history. Many carriers are healthy and do not know they carry a condition. Depending on the inheritance pattern, a carrier may not have any symptoms, and it may not affect them.

However, if both you and your partner carry the same condition, and decide to start a family, there is a chance it could be passed on to your child. The only way to know is through a genetic carrier screening test.

Benefits of Genetic Carrier Screening

Genetic carrier screening gives you information you wouldn’t otherwise have. It can help identify your chance of passing on an inherited condition, even if you feel healthy and have no family history.

For many people, it provides peace of mind. For others, it gives them time to explore options, access early support, or plan their next steps, with the right care, advice, and support.

Who Should Get a Genetic Carrier Screening Test?

Genetic carrier screening is available to anyone planning a pregnancy. The Royal Australian College of General Practitioners recommends that carrier screening is offered to all women1 hoping to start a family or in the early stages of pregnancy, regardless of family history.

This is because the majority of affected children are born to parents with no known history of genetic conditions in their families.

People planning to use donor sperm or eggs for pregnancy may also be offered genetic carrier screening, so they can understand if they are a carrier before donor matching.

When is Genetic Carrier Screening Performed?

Genetic carrier screening is ideally performed before you conceive. This gives you and your partner the most options if a condition is identified, giving you time to have genetic counselling to understand your individual risk.

At Adora Fertility, genetic carrier screening is offered before treatment begins, and if you choose to have the test, treatment only starts once the results are known.

If you are already pregnant, genetic carrier screening can still be done in the first trimester (the first 12 weeks of pregnancy). If testing in early pregnancy shows that you have a higher risk of having an affected child, it can help guide any next steps, including genetic counselling, with your healthcare team.

What Conditions Does Genetic Carrier Screening Test For?

Genetic carrier screening tests for a wide range of inherited conditions. You may be offered a ‘three-gene panel’ test or an extended test, depending on your personal and family history and what’s right for you.

In Australia, the standard three-gene panel test looks for the most common inherited conditions:

• Cystic Fibrosis - which affects the lungs and digestive system
• Spinal Muscular Atrophy (SMA) - which affects the nerves that control muscle movement
• Fragile X Syndrome - which affects learning, development, and behaviour.

While an extended genetic carrier screening test checks the carrier status of hundreds of genes, identifying other serious and rare conditions. Unlike the three-gene panel test, extended Genetic Carrier Screening is not covered by Medicare, and therefore has an out-of-pocket cost.

Do Both Partners Need to Have Genetic Carrier Screening?

Genetic carrier screening usually starts with the female partner. If no carrier conditions are found, no further testing is generally needed.

But if the female partner is a carrier, then the male partner - or a sperm donor - is also tested.

Both partners may also be screened together, especially if the test is performed during early pregnancy or is an extended panel test. This is known as couple screening and may be preferred when timing is essential or when there’s a higher chance of detecting a condition.

What Happens if One of Us is a Genetic Carrier?

Most conditions screened for are inherited in what’s called a recessive way. That means you can carry the gene without ever being affected yourself. So if only one of you is a genetic carrier, there is no risk of passing on the severe condition. However you may pass on the abnormal gene, meaning your child becomes a carrier as well.

But if both parents carry the same genetic condition, there’s a chance a child could inherit both copies - one from each parent - and be affected by it.

For some conditions, inheritance works differently and depends on whether the parent carrying the gene is male or female. A genetic counsellor can explain what the results mean for your individual situation.

What if We Are Both Genetic Carriers of the Same Condition?

If both partners carry the same condition, there are a few options to consider to help you have a family. These typically include:

Seeing a genetic counsellorA genetic counsellor can help you understand what the results mean, explain your reproductive options, and support you in making informed choices.

• Using donor sperm or eggs
  Some people choose to use donor sperm or eggs from someone who is not a carrier of the condition, which means there’s no risk of passing it on to a child.
• Further testing during pregnancy
  If you’re already pregnant, you may be offered additional testing such as chorionic villus sampling (CVS) or amniocentesis. These tests can check whether the baby has inherited the condition.
• IVF with preimplantation genetic testing
  IVF can be used alongside embryo genetic testing to ensure that only embryos not affected by the condition are used in treatment.

Your GP or Fertility Specialist will advise next steps, giving you all the information and support you need.

FAQs About Genetic Carrier Screening

Is genetic carrier screening worth it?

For many people, yes – especially if you’d like more information about your reproductive health. It is a personal decision, but genetic carrier screening can provide clarity and peace of mind, whether results show a low or increased chance of passing on a condition.

Is genetic carrier screening covered by Medicare?

Yes. In Australia, Medicare covers the three-gene panel genetic carrier screening test for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome. It is routinely offered and bulk-billed for people planning a pregnancy or in early pregnancy. If you choose an expanded panel test, there may be additional costs. Your GP or fertility specialist can advise.

Is genetic carrier screening the same as NIPT (Non-Invasive Prenatal Testing)?

No, genetic carrier screening and NIPT (Non-Invasive Prenatal Testing) are different tests. Genetic carrier screening checks whether you or your partner carry certain inherited genetic conditions, like Cystic Fibrosis. NIPT screens for chromosomal conditions, such as Down syndrome. It is performed during pregnancy, after the 10th week. Both types of testing may be offered as part of your care.

What does genetic carrier screening test for?

Genetic carrier screening tests for inherited conditions that could be passed on to a child. The standard three-gene panel in Australia, covered by Medicare, screens for:

• Cystic Fibrosis
• Spinal Muscular Atrophy (SMA)
• Fragile X Syndrome

Some people choose an expanded panel test, which screens for many more conditions. Your GP or Fertility Specialist can help you decide what’s right for you.

What does it mean if you are a genetic carrier?

It means you carry a gene for an inherited condition but are unaffected by it. You may still pass it on to your child, especially if your partner is also a carrier of the same condition.

More Information About Genetic Carrier Screening

We understand that you might feel uncertain or anxious about screening tests before or during pregnancy, and what the results might mean. Genetic carrier screening is just one way to learn more about your reproductive health, so you can make informed decisions.

Your Adora Fertility team is always available to answer any questions you have. If you have any concerns about genetic carrier screening, contact your Adora clinic team here or speak to your GP.

Sources

RACGP - A Guide to Preconception and Early Pregnancy Carrier Screening for Hereditary Rare Di