Pre-Implantation Genetic Testing (PGT)
PGT is a highly sophisticated scientific technique used to test embryos for specific genetic or chromosomal variations. It helps select embryos unaffected by such variations before transfer, to ensure the best chance of success.
We offer an internationally recognised PGT programme that has helped hundreds of couples conceive healthy babies – many after long periods of infertility or with serious genetic diseases in the family.
What are chromosomal variations?
Each human cell contains genetic material that is arranged in dense strands of DNA, called chromosomes. This material provides instructions for the functions of that cell. Each cell usually contains 46 chromosomes, however eggs and sperm contain half the number of chromosomes, to complete the pairing at fertilisation. Having more or fewer chromosomes than 46 is called ‘aneuploidy’. Most embryos with aneuploidy will not implant or will miscarry early in pregnancy. Less commonly, an aneuploid embryo may result in the birth of a child with a chromosome abnormality, such as Down’s Syndrome.
There are a number of different types of chromosomal variations. In some cases, a child may be born with a chromosome missing from a pair (monosomy), or an additional chromosome (trisomy). In other cases, a portion of a chromosome may be missing, duplicated or translocated – where a section of one chromosome breaks off and attaches to another.
Up to 70% of embryos, whether conceived naturally or through IVF, are lost before birth. This usually occurs within the first three months of pregnancy, most often before implantation. As a woman gets older, the proportion of her eggs that have aneuploidy increases. In women under 35 years old, 25% of her embryos are screened as being aneuploid. By comparison, this increases to 63% by the time a woman is 40 years old.
We can now test for over 200 specific inheritable genetic disorders, including Huntington’s Disease, Cystic Fibrosis and Thalassaemia, using PGT. This can help couples who are at risk of transmitting a genetic disease to have a healthy baby.
Who might consider PGT?
You may wish to consider PGT if you are concerned about any of the following:
- having a child with an inherited genetic condition
- a known family history of chromosome rearrangement, in either partner
- previous chromosomal variation in pregnancy
- advanced maternal age (we usually test for Down Syndrome if the mother is 38 or over)
- recurrent miscarriage
- repeated unsuccessful embryo transfers
- terminating a pregnancy affected by chromosomal variation
How does PGT work?
First, embryos are created in the IVF laboratory and grown for 5-6 days, until a small sample of cells can be gently removed from the embryo. Approximately 4 to 10 cells are removed and genetic testing will be performed on these cells. Meanwhile, the embryo is frozen until the results of the genetic analysis are available. Only unaffected embryos, or those free of a specific disorder, will be selected for transfer into the uterus, to increase the chance of a healthy baby.
PGT-A for Aneuploidy (PGT-A)
PGT-A enables the identification of each of the 46 chromosomes within a sample of cells from an embryo. PGT-A is used to help choose an embryo with the highest chance of pregnancy. Only embryos that have the correct number of chromosomes will be selected for transfer.
PGT-A is suitable for those patients where the women is over 38 years; or have a history of recurrent implantation failure or recurrent miscarriages.
PGT for Monogenic disorders (PGT-M)
PGT-M is used to screen embryos that are at risk of inheriting a genetic condition for which one or both parents are known carriers. PGT-M involves designing a custom-made test, specific for each couple and their individual condition. This must be done prior to starting any IVF treatment and can take a number of months to complete.
Aneuploidy screening (PGT-A) is performed alongside PGT-M testing, so that chromosome results are also reported for these embryos.
Preimplantation Genetic Testing for Structural Rearrangement (PGT-SR)
PGT-SR is used to screen embryos from a parent who is a known carrier of a balanced chromosome rearrangement. PGT-SR can identify embryos with an unbalanced number of chromosomes, or with other chromosomal aneuploidies, so that they are not selected for transfer.
How much does PGT cost?
The below pricing is subject to change, and you should always discuss current pricing with your Fertility Specialist and QFG at the time of your treatment.
- No test design required therefore treatment can usually start straight away.
- Cost of the analysis is $750/embryo, capped at $5,250 for 7 to 10 embryos.
- Biopsy fee of $300 per cycle.
- Medicare rebates do not apply.
- Structural rearrangement results must be reviewed by the PGT lab prior to starting treatment to confirm the segment size can be detected.
- Cost of the analysis is $800/embryo, capped at $5,600 for 7 to 10 embryos.
- Medicare rebates may apply for eligible patients.
- An evaluation is required to design a test specific for each couple. The fee for this evaluation, when a couple are at risk of one monogenic condition is $2,400.
- The evaluation for 2 conditions or a particularly complex case $2,642.80
- Medicare rebates may apply for eligible patients for both the evaluation and the genetic analysis.
- Cost of the analysis is: $900/embryo capped at $6,300 for 7 to 10 embryos.
The cost of PGT can vary depending on your individual circumstances. A Medicare rebate is 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 FAQs here.
Additional information, pricing and associated timelines are available from your Fertility Specialist and Queensland Fertility Group.
If you or your partner have a serious inherited genetic disease, or would like to consider PGT for any other reason, your specialist can refer you to our PGT team.
To find out more about genetic testing offered at Queensland Fertility Group, call us on 1800 111 483 or complete the form below.