Genetic Testing

Guide your decisions with reproductive carrier screening

If you’re looking to start a family (or you’re already pregnant), a reproductive carrier screening can prepare and empower you to make an informed decision. 

Inherited genetic conditions affect up to 1 in 400 babies. Reproductive carrier screening is a form of genetic testing designed to assess the likelihood of you or your partner passing a genetic condition onto your future child. The results of this test can help you to make an informed choice as your family grows. You can find out more about reproductive carrier screening here.

How reproductive carrier screening works

A carrier is someone who has the gene for a certain condition without being affected by the condition themselves - they just “carry” the gene. However, this faulty gene may potentially be passed on to your baby through your egg or sperm. 

It is best done prior to conceiving, but can be done even if you’re already pregnant. This genetic test may also be accessed through your family GP or directly with the testing service.

Provide a sample

The process starts with a quick and easy sample collection. You can either have a small amount of blood drawn from your arm or use a cheek swab, where a tiny brush is rubbed inside your mouth to gather cells. I can provide a referral to a pathology lab to have this done, or direct you to online providers for a home collection kit.

Analyse the results

Your sample is then sent to a lab, where technicians check your DNA for specific gene changes. These are linked to certain genetic disorders, such as cystic fibrosis or sickle cell anemia.

Interpret the results

The results will identify whether you and/or your partner are carriers of any of these faulty genes. This will inform the likelihood of your baby having the condition.

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Next steps

After getting your results, it’s important to chat with a genetic counsellor or a fertility specialist such as myself. I can help you understand what the results mean for you and your family, discuss any potential risks, and guide you on what steps to take next if required.

Types of reproductive carrier screening tests

Medicare offers a rebate for the basic 3-gene carrier screening test for women, which tests for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. 

Expanded carrier screening is available if you want a more comprehensive overview of your genetic make-up. This screens for hundreds of rare genetic conditions that can be passed to your child.

Is reproductive carrier screening for you?

Carrier screening can be a good idea for anyone preparing for a little one - even if you do not have a family history. Most “carriers'” of a genetic condition don't have a known family history of inherited genetic disorders because these faulty genes can be passed down for generations without affecting anyone. 

If you and/or your partner are found to have an increased likelihood of passing on an inherited genetic condition, we will discuss your options together. You may consider:

  • Proceeding with a natural pregnancy and managing the condition if it appears in your baby

  • Proceeding with a natural pregnancy and having a test during pregnancy to assess if your growing baby is affected by the condition

  • Conceiving with IVF and preimplantation genetic testing to choose embryos without the genetic mutation 

  • Conceiving through IVF using donated sperm or eggs, which have been screened for genetic mutations

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FAQs

  • Yes. Most people who carry genetic changes are healthy and do not know about it. There can be many generations of healthy “carriers” before a child is born with the condition.

  • In general, carrier screening tests are highly accurate - especially a positive (abnormal) result. False positives are very rare in genetic carrier screening.

  • It is best to check with your private health insurance company. The basic 3-gene screening (cystic fibrosis, spinal muscular atrophy and fragile X syndrome) is covered by Medicare.

  • It’s only ever worth it in hindsight. If you and your partner test positive for the same genetic disorder, then we can use the IVF process to help you or find another solution. Without carrier screening, we'll only know after you’ve fallen pregnant.

  • The cost can be a deterrent for some - expanded panel testing is approximately $1000. Even the bulk-billed 3-gene test has a significant economic impact since Medicare is funded by tax payers. For some people, the test or the results can cause significant anxiety. You should also consider how the results of your test may affect your life insurance or health insurance.

  • If you’re planning on expanded panel testing, then I do advise you to submit your test samples at the same time as results can take weeks/months, resulting in delays in fertility treatment if done separately. Also, to properly understand the risks to your future children, we need to consider the test results from both partners.