Pre-implantation genetic testing
What is pre-implantation genetic testing (PGT)?
Pre-implantation Genetic Testing (PGT) is a sophisticated scientific technique which can be used to test embryos for either a specific known single gene condition or chromosome variation.
This enables only chromosomally healthy embryos or those unaffected by a specific disorder to be selected for transfer during an IVF cycle, maximising the chance of a healthy baby.
Up to 70% of embryos created, either via natural conception or IVF don’t survive the first 3 months of pregnancy and many don’t achieve implantation because of those two reasons.
IVFAustralia offers an internationally recognised pre-implantation genetics program, managed by Australia’s leading pre-implantation genetics laboratory Virtus Diagnostics.
- Who is PGT suitable for?
You may wish to consider pre-implantation genetic testing if you are concerned about any of the following issues:
- Either or both partners are carriers of single gene mutations that you want to avoid passing on to future children
- Either partner has a chromosome rearrangement (called a translocation) that can result in chromosomal variations in the eggs or sperm that could lead to either miscarriage or health problems in the child
- A previous pregnancy has been affected by a chromosomal variation
- Advanced maternal age (usually to test for Down syndrome where the mother is over 38 years old)
- Recurrent miscarriage
- Repeated IVF failure (where 5 or more embryos have been transferred without pregnancy)
- What does PGT involve?
In pre-implantation genetic testing, the woman goes through a standard IVF cycle. While the embryos are developing in the IVF laboratory, a few cells are removed from each embryo and tested in one of two ways.
The technique of Next Generation Sequencing tests all 24 chromosomes in an embryo to enable the selection and transfer of chromosomally healthy embryos.
Read more about PGT with Next Generation Sequencing >
Karyomapping is used if you or your partner are known to be carriers of a serious single gene disorder.
Karyomapping can identify which embryos are NOT affected by the disorder preventing the condition from being passed on to the next generation.
Read more about PGT with Karyomapping >
- What is a chromosomal variation?
Our genetic material, or DNA, is tightly coiled into structures called chromosomes. Every cell in an embryo should have 46 chromosomes, arranged in 23 pairs. An extra or missing chromosome means the embryo has a serious variation. This is called “aneuploidy” and includes conditions such as Down syndrome, where there is an extra chromosome number 21.
These chromosome variations or aneuploidies can affect up to 70% of early human embryos, and most cause the embryo to stopping developing resulting in failure to become pregnant or miscarriage.
- What single gene disorders can PGT test for?
We are able to test for a wide range of single gene disorders, including:
- Huntington’s disease
- Cystic fibrosis
- Duchenne muscular dystrophy
- BRCA1/BRCA2 (hereditary breast/ovarian cancer)
- Can you use PGT to test for a chromosomal translocation?
A chromosomal translocation is a condition where a piece, or pieces, of two chromosomes are exchanged or linked together.
Up to 2% of people with reproductive problems are found to have a “balanced translocation”.
A balanced translocation is where there is a chromosomal rearrangement but overall there is the correct amount of genetic material present so that the person himself or herself is completely healthy.
However, in this situation, some of their eggs or sperm will end up with the wrong amount of genetic material, leading to the embryo having an unbalanced translocation. i.e the embryo has the wrong amount of genetic material.
Embryos with an unbalanced translocation, usually miscarry, or are born with severe health problems.
If either partner carries a balanced translocation, we can use PGT with Next Generation Sequencing to test each embryo for the presence of an ‘unbalanced translocation’.
This enables the selection and transfer of chromosomally healthy embryos, maximising the chance of a successful pregnancy and a healthy baby.
- Can you use PGT for gender selection?
Some genetic conditions affect one gender, for example haemophilia and muscular dystrophy. When it is not possible to detect the exact genetic error that causes the disease, PGT can be used to determine the gender of embryos, so embryos of the required gender and with the correct number of chromosomes will be transferred.
Gender selection is prohibited for family balancing and can only be used when there is a medical reason.
- Does PGT harm the embryo?
Not as far as we know. Current research shows that the likelihood of a biopsied embryo implanting is similar to that of a non-biopsied embryo. Despite the removal of a few cells from the embryo, there have been no reports of any health problems as a result of embryo biopsy in children conceived after PGT.
- How much does PGT cost?
An IVF cycle with PGT has three components of cost:
- The cost of the IVF technique
- The cost of the hospital stay
- The cost of the PGT technology
PGT with Karyomapping for single gene disorders costs $1,640 for the preliminary evaluation plus $700 per embryo biopsied with a maximum cost of $2460 for 6 or more embryos from a single IVF cycle.
PGT with Next Generation Sequencing costs $700 per embryo biopsied with a maximum cost of $3995 for up to 10 embryos.
The cost of PGT can vary depending on your individual circumstances. A new Medicare rebate is now available for eligible couples and individuals, for pre-implantation genetic testing (PGT) of embryos for specific genetic or chromosomal variations prior to implantation. To find out if you may be eligible to receive the rebate please see the Medicare criteria via our FAQ's here.
If you have any questions about the cost of pre-implantation genetic testing with IVF Australia please discuss this with your IVF specialist or genetic counsellor.
Read more about the cost of IVF >
Want more information about pre-implantation genetic testing?
Pre-implantation genetic testing (previously referred amongst the community as PGD or pre-implantation genetic diagnosis) has helped many couples conceive healthy babies, many after long periods of infertility or with serious genetic diseases in the family.
We have a genetic team dedicated to helping patients who are at risk of inherited conditions and can provide you with information about these risks, and support you with any decisions you make.
Appointments are available within the next couple of weeks and will cost approximately $150 for a couple after the Medicare rebate.