Reproductive Carrier Screening (RCS) in Sydney
If you’re looking to start a family (or you’re already pregnant), a reproductive carrier screening can prepare and empower you.
📞 Call us (02) 9161 4189
What is Reproductive Carrier Screening?
In any pregnancy, there's a chance (albeit a small one) that the baby will be born with a serious genetic condition. A reproductive carrier screening tests the parents' blood to see the likelihood of passing a genetic condition onto their child. It helps you make informed choices as your family grows.
📞 Call us (02) 9161 4189
Who Should Consider Carrier Screening?
Carrier screening can be a good idea for anyone preparing for a little one - whether you have a family history of conditions or not. Most 'carriers' of a genetic condition actually don't have a family history of genetic conditions.
In saying that, it's uncommon for both you and your partner to be carriers of the same genes (unless you are related), and the test doesn't pick up on every health condition. There is now a Medicare rebate (for women) for the basic test of 3 genes (Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X).
How Reproductive Carrier Screening Works
If you’re looking to plan a family, you and your partner might chat to your general practitioner or fertility specialist about genetic testing. They can help you arrange the screening, or you can test directly with the testing service. From there, the process might look like:
-
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.
-
Your sample is then sent to a lab, where technicians check your DNA for specific gene mutations. These are linked to certain genetic disorders, such as cystic fibrosis or sickle cell anemia.
-
If the test shows you carry a mutation, it means you have a gene associated with a condition, but you don’t have the condition yourself. Being a carrier means you could pass this gene on to your children, but it doesn’t affect your own health.
-
After getting your results, it’s important to chat with a genetic counsellor or a specialist like myself. We 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.
📞 Call us (02) 9161 4189
Types of Genetic Conditions Screened for Fertility Tests
-
Let’s say you (and maybe a partner) are thinking about starting a family, and there’s a specific genetic condition that runs in your family, like cystic fibrosis. This test is focused on that one condition. It helps you find out if you carry the gene for it. If you do, you’ll have a clearer picture of the chances of passing it on, which can guide your next steps in family planning.
-
This screening tends to be the standard (and it’s bulk-billed), focusing on a few specific conditions, such as cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. It checks for genes linked to these three conditions making it particularly useful if these conditions are on your radar or if you’ve heard about them in your family’s health history.
-
If you want a comprehensive view of your genetic health, the expanded carrier screen is like a thorough check-up. It screens for hundreds of rare genetic conditions that could affect children.
Finding the Right Specialist - Why Me
As a fertility specialist and reproductive surgeon, I can support you across your fertility journey. A reproductive genetic carrier screen can be part of this if we decide it works for you. Whatever you choose, I have the expertise and compassion to guide you.
📞 Call us (02) 9161 4189
FAQs
-
For the most part, carrier screening tests are highly accurate - especially a positive (abnormal) result. False positives are very rare in genetic carrier screening.
-
This will depend on your private health insurance. Good news - the basic 3 gene screening (Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X) 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.
Without carrier screening, we'll only know after the fact.
-
Cost - 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.
The ethics of embryo selection (and the discard of viable embryos) has been in much debate.
Results may be incorrect.
-
If you’re planning expanded panel testing, then yes:
Results can take weeks/months resulting in delays in fertility treatment if done separately.
The results need to be matched (ie. you need to test for the same condition.) So best to do the test at the same company to ensure results match.
Counselling is done as a couple.
-
We can use the IVF process to create embryos in the lab.
These embryos can be biopsied to ensure they do not have a genetic disorder before being used for pregnancy.
CONTACT US
Let's chat
Book a consult with me and find the treatment pathway that works for you
Contact us today using the form or call to arrange a consultation. Dr I-Ferne consults at:
Sydney CBD | Crows Nest | Lindfield | Ph: (02) 9161 4189