Preimplantation genetic testing (PGT)

Of course, everyone wants a happy, healthy baby. Through PGT, we can test the number of chromosome copies and check for gene mutations. This can help make sure your pregnancy goes as planned.

Abnormalities in the embryo often lead to miscarriage. Avoiding that emotional rollercoaster is pivotal. With PGT we know which embryos have the lowest probability of abnormalities. Those, we will use to implant or freeze for future use.

What is preimplantation genetic testing?

Sometimes, we want to know a little more about an embryo before implanting it.

"When we do an in vitro fertilisation (IVF) treatment, we basically create an embryo outside the body. This enables us to do genetic testing on the embryo. That can be important for multiple reasons. Of course, the most important one is to know whether the embryo has any abnormalities. But it also avoids multiple IVF cycles. When you’re a woman over 38 and you have 7 embryos of which only 1 may be viable, you want to make sure you use the viable one. So it reduces the time of pregnancy by not having implantation failures or miscarriages due to abnormal embryos."

Dr Ben Kamien  
Clinical Geneticist
preimplantation genetic testing

Who is PGT for?

PGT may be for you if:

You carry a genetic or chromosomal disorder

You are a woman over 35 years of age

You have experienced multiple miscarriages

You have had multiple failed fertility treatments

Please know that this is not a standard part of IVF. We will discuss PGT with you if this test fits your individual situation.

What does PGT encompass?

PGT

Term used to describe all types of genetic testing on embryos.

PGT-A:  PGT for aneuploidy

Test for the correct number of chromosomes in embryos.

PGT-M: PGT for monogenic/single gene disorders

Test in embryos for a known inherited disorder, caused by a single gene.

PGT-SR: PGT for chromosome structural rearrangements

Test used when it's identified that the structure of a chromosome is changed in a parent. This test checks for extra or missing genetic material in embryos.

What does PGT involve?

When the embryos are 5 days old, we extract 5 to 10 cells. This is known as an embryo biopsy. Then, we test these cells for abnormalities, as noted above (PGT-A, PGT-M, PGT-SR). Your embryo stays in the incubator to continue to grow and develop.
"We can assess all 23 chromosome pairs for abnormalities. The embryos where no abnormalities are detected, are transferred. This helps improve the success rate, while also reducing the chance of miscarriage."
Dr John Love

What abnormalities can be tested?

(and which ones can’t you test for)

Some people carry genes on their chromosomes that may result in a miscarriage. Other genes can mean your baby will be born with a genetic disorder.

We can identify more than 20,000 gene mutations. For example, we can identify genes related to:

Cystic fibrosis

Spinal muscular atrophy (SMA)

Fragile X syndrome

That said, we cannot identify all possible disorders. For example, most non-genetic disorders will remain unknown.

Key points

We can test your embryo before implantation. This helps us reduce your risk of miscarriage or genetic conditions such as:

Cystic fibrosis

Spinal muscular atrophy (SMA)

Fragile X syndrome

 

Does PGT harm the embryo?

preimplantation genetic testing
So far, there have been no reports of health problems from tested embryos. We do remove cells from the relevant embryo, but this does not lead to any negative health consequences.
At Fertility Specialists of WA we work alongside a geneticist and an endocrinologist. Our joined focus as a team is to detect all obstacles when aiming for a healthy pregnancy.

"We know that many embryos can carry chromosomal abnormalities that can reduce a couple’s chances of falling pregnant. PGT allows us to identify chromosomally normal embryos for transfer, which are more likely to result in a healthy baby. That said, IVF success rates can be affected by many factors and PGT does not guarantee you will fall pregnant"

Dr Mike Aitken

It is important to note that PGT is regulated by law in Western Australia. We may only use it in certain cases. We can discuss this with you at our specialised clinic.

To learn more about genetic testing in Perth, WA, talk to our specialised fertility clinic.

We are here for you

Prof Roger Hart - Medical Director - Fertility Specialists of Western AustraliaDr Doreen Yeap - Fertility Specialists of Western AustraliaDr Chris Nichols - Fertility Specialists of Western AustraliaDr Sebastian Leathersich - Fertility Specialists of Western AustraliaDr Alisha McCreery - Fertility Specialists of Western AustraliaDr Roger Perkins - Fertility Specialists of Western Australia
Dr Krish Karthigasu - Fertility Specialists of Western AustraliaDr Linda Wong - Fertility Specialists of Western AustraliaDr Wei-Ying Chua - Fertility Specialists of Western AustraliaDr Shital Julania BioImageDr Bernadette McElhinney - Fertility Specialists of Western AustraliaDr John Love - Fertility Specialists of Western Australia