Genetic testing and fertility:
What’s it all about?
Why are we talking about genetics?
If you’re thinking about having a baby, already going through IVF, or newly pregnant, someone might bring up genetic testing. And you might be thinking, “Do I really need this?” or “Is something wrong?”
The truth is, genetic testing isn’t about expecting problems. It’s about getting clearer information to guide your choices. Sometimes it helps us understand an embryo’s health. Sometimes it helps find out if you or your partner could pass on a condition to your child. And sometimes, it’s just part of good preparation.
There are a few types of tests available. Let’s go through the main ones together.
Genetic testing Perth
Testing embryos during IVF (PGT)
If you’re having IVF, there’s an option to test embryos before we transfer them. This is called preimplantation genetic testing, or PGT. There are a few types, depending on what we’re looking for.
PGT-A: Chromosome testing
PGT-A checks whether an embryo has the usual number of chromosomes. That number is 46. If an embryo has extra or missing chromosomes, it might not implant or it could lead to a miscarriage. These changes are more common with age, especially after 35.
Embryos might look completely normal under the microscope, even when something’s not quite right genetically. That’s why this kind of testing can help us choose the embryos most likely to lead to a healthy pregnancy.
We usually do the test on embryos at the blastocyst stage (Day 5). A few cells are gently taken from the outer layer and sent to the lab. The embryos are frozen while we wait for results, which takes around two to three weeks.
PGT-M: Testing for inherited conditions
PGT-M is used when there’s a known condition that runs in the family, like cystic fibrosis, Fragile X, or BRCA-related cancers.
Before we even start IVF, the lab will design a specific test for your family’s genetic pattern. Then, during IVF, we can check which embryos have inherited the condition and which haven’t.
This can be helpful if:
- You or your partner are known carriers of the same genetic condition
- One of you has an inherited condition that could be passed on
- There’s an X-linked condition (passed through the mother’s side)
PGT-SR: Structural rearrangements
Some people have small changes in their chromosomes that don’t affect them, but can affect fertility or increase the chance of miscarriage. If this is something found in your blood tests, we may recommend PGT-SR to check embryos before transfer.
Genetic carrier screening test Perth
Carrier screening (before or during pregnancy)
This is a simple test (usually saliva or blood) that checks whether you or your partner carry certain genetic conditions—things like cystic fibrosis, spinal muscular atrophy or Fragile X.
Most people who are carriers are completely healthy and have no idea. But if both partners carry the same condition, the chance of passing it on to a child is higher.
You can choose between:
A three-gene panel
which looks at the most common conditions
An expanded panel
which checks for over 400 genetic conditions
We usually recommend doing this before pregnancy, if possible. That way, you have time to explore your options if anything shows up.
Non-invasive prenatal testing (NIPT)
If you’re already pregnant, there’s a test called NIPT that can be done from 10 weeks. It’s a simple blood test that checks for common chromosome conditions, including:
- Down syndrome (Trisomy 21)
- Trisomy 18
- Trisomy 13
- Sex chromosome differences
This test doesn’t harm you or the baby. It’s not a diagnosis, but it gives a clearer picture than older screening tests. If something comes up, we’ll talk about what it means and what you can do next.
Fertility treatment Perth
What people often wonder
“Will I still need IVF if I do these tests?”
Not always. Carrier screening can be done even if you’re not doing IVF. Preimplantation testing is only part of the IVF process.
“What if I find out I’m a carrier?”
There are options. We might talk about IVF with testing, using a donor, or pregnancy testing later on.
“Do I have to do all of this?”
No. We only recommend what’s relevant to your situation. You’re always in control of what you choose.
Dr Tamara Hunter
What now?
- Get informed If you’re thinking about getting pregnant, or already are, ask: “Should I be considering any genetic tests?”
- Start early, if you can. Carrier screening is most useful before you’re pregnant. If you're already on your way, we’ll help you decide what tests make sense now.
- Get support. I’m here to help you understand what these tests do, whether they apply to you, and what the results might mean. You don’t need to figure it all out on your own.
Appointments are available at The Woom (West Perth) and Monash IVF (West Leederville). Genetic testing, where needed, is carried out at Monash IVF West Leederville.