Genetic Testing
“Embryo screening doesn't increase your chances of a baby from your egg collection. What it does is exclude embryos likely to fail, miscarry, or have significant chromosomal abnormalities. It reduces the emotional burden and shortens the time needed to achieve a healthy pregnancy."
— Dr Myvanwy McIlveen
Let's Explore
Preimplantation Genetic Screening FAQs
What is Preimplantation Genetic Screening (PTG-A)?
Preimplantation genetic testing for aneuploidy (PGT-A) is an advanced reproductive technology that evaluates embryos for chromosomal abnormalities (aneuploidy) before implantation during IVF. This process helps identify embryos with the best genetic profile, increasing the likelihood of a successful pregnancy.
Why should I do PGT-A?
During your IVF cycle, an embryo is selected for transfer based on its appearance under the microscope. However, many embryos that appear normal may still have chromosomal abnormalities. These embryos are less likely to implant or often miscarry, though there is a possibility you may fall pregnant with a child that has a genetic condition, such as Down Syndrome.
To reduce these risks, some couples choose to undergo PGT-A. This reduces the likelihood of miscarriage by excluding embryos with chromosomal abnormalities. This process not only improves the chances of successful implantation by may also reduce the number of embryo transfers needed to achieve a healthy pregnancy.
Who can benefit from PGT-A?
PGT-A is typically recommended for couples with a history of recurrent miscarriage, advanced maternal age, or a known risk of carrying a genetic disorder (PGT-M). It ensures the selection of healthy embryos, reducing the likelihood of miscarriage and the birth of a child with genetic abnormalities.
Who should consider this technology
If you’ve had multiple embryo transfers (>4-5) without success
- If you have had multiple miscarriages
- If you wish to avoid a Down syndrome pregnancy
- If you would prefer to have less embryos in storage
- Older patients (>37) who are more at risk of embryos with aneuploidy
How is PGT-A performed?
PGT-A involves the biopsy of one or more cells from the embryo at the blastocyst stage (at day five or six of development). The embryos are then frozen & the cells tested. We then screen for chromosomal abnormalities. Single gene disorders such as cystic fibrosis can also be screened for if you are known to be at risk. (PGT-M)
Is PGT-A a guaranteed way to have a healthy baby?
While PGT-A significantly improves the odds of selecting healthy embryos, it cannot guarantee a successful pregnancy or the birth of a healthy baby. Other factors, such as age, general health, embryo quality and uterine factors also play essential roles in achieving a successful pregnancy.
Are there any risks associated with PGT-A?
PGT-A is generally considered safe, although there is slight risk of damaging the embryo during the biopsy process. However, technological advancements have significantly reduced these risks.
What is the cost and is it covered by Medicare?
The cost for testing each embryo is $995, in addition to the expenses of your IVF cycle. This fee is capped if you have five or more embryos for testing. Typically, most people have 1 to 3 blastocysts suitable for testing. If you have a genetic disorder such as spinal muscular atrophy (SMA), additional genetic testing is required, which is covered by a Medicare rebate that can help offset the costs. If you do not have a specific genetic disorder we are screening for then Medicare does not offer a rebate.
Preimplantation Genetic Diagnosis FAQs
What is PreImplantation Genetic Diagnosis?
Preimplantation Genetic Diagnosis (PGT-M) refers to the process of testing embryos to identify and exclude inherited genetic disorders.
This technique uses a method like Preimplantation Genetic Screening (PGT-A). On days 5 or 6 of development, a sample of cells is taken from the outer edge of the embryo, which is then frozen while the cells are sent for analysis. We test for specific genetic mutations associated with inherited disorders (PGM-T) and also screen the embryos for overall chromosomal abnormality (PGT-A).
What genetic disorders can be screened for with PGD?
Most genetic diseases can be screened for if the gene mutation or location of the gene is known. For example, cystic fibrosis (CF), spinal muscular atrophy (SMA), BRCA gene mutations can all be tested for.
We can also do exclusion testing for Huntington’s Disease when someone has chosen not find out their own status but has an affected parent.
- Any single gene defect e.g., cystic fibrosis, BRCA1, haemophilia
- Chromosomal translocations (PGT-SR)
- Exclusion testing
What is involved in PGM-T?
It takes around 4-6 months to prepare for an IVF cycle for embryo testing because several steps are needed. After your initial consultation with one of our NFS doctors, we will refer you to a clinical geneticist at Genea for a Zoom consultation. The lab will collect DNA samples (blood spots or saliva) from yourselves and other family members to start a genetic workup that will take 3 months. This allows us to fingerprint DNA markers around the affected gene to help distinguish between the normal and affected genes. The genetic workup costs $2500 & most people will receive a Medicare rebate of $1648.10.
Are the costs different for
PGD vs PGS?
Yes, the government provides a Medicare rebate for the first 3 embryos tested with PGT-M or PGT-SR but not with PGT-A alone. This makes the cost of testing the embryos less expensive with PGT-M or PGT-SR than PGT-A. The actual IVF cycle costs are the same.
Will I know the gender of my embryo?
We only disclose the gender of embryos if it is relevant to the test results. For example, when testing for X- linked genetic disorders- where women are carriers but not affected- the gender is known. However, in most cases, the lab does not reveal the embryos gender. You can receive information about the gender from the lab once you reach 8 weeks gestation.
Genea Genetic Testing of Embryos (Pre-implantation Genetic Screening PGS)
How long has Genea being doing embryo testing?
Our IVF clinic, Genea Newcastle, has been providing embryo testing services for over 20 years to the Hunter, Northern NSW, Upper Hunter, New England and the Central Coast based patients.
What can we screen for in an embryo?
- Any single gene defect eg cystic fibrosis, BRCA1, haemophilia (PGT-M)
- Chromosomal translocations (PGT-SR)
- Chromosomal Abnormalities (to exclude Down syndrome) (PGT-A)
Why consider GeneSure testing with us?
We are constantly on the lookout for the most advanced technology to provide the best outcomes for our patients. Our highly experienced team of scientists trained in embryo biopsy and genetic testing, work closely with our genetics team at Genea Sydney. Our patients don’t need to travel to Sydney for egg collections; all embryos tested are biopsied at our lab in Newcastle.
Click here for more information on Genea’s testing: