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Genetic Testing PGD

What is PGD?

Pre-implantation Genetic Diagnosis (PGD) is a sophisticated scientific technique which can be used to test embryos for either a specific known genetic condition or chromosome abnormality.

This enables only chromosomally normal 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 PGD program, managed by Australia’s leading PGD laboratory at Virtus Health based in Melbourne.

Pre-implantation Genetic Diagnosis

Using PGD to overcome inherited genetic disorders, recurrent miscarriage or repeat IVF failure. 

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Who is PGD suitable for?

You may wish to consider Pre-implantation Genetic Diagnosis 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 genetically abnormal eggs or sperm.
  • A previous pregnancy has been affected by a chromosomal abnormality.
  • 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 PGD involve?

In PGD, 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.

Advanced embryo selection (Array CGH)

Array CGH screens all 24 chromosomes in an embryo to enable the selection and transfer of only chromosomally normal embryos.

Read more about PGD with Array CGH >

Karyomapping

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 PGD with Karyomapping >

What is a chromosomal abnormality?

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 is abnormal. This is called “aneuploidy” and includes conditions such as Down syndrome, where there is an extra chromosome number 21.

These chromosome abnormalities 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 PGD test for?

We are able to test for a wide range of single gene disorders, including:

  • Huntington’s disease
  • Cystic fibrosis
  • Thalassaemia
  • Duchenne muscular dystrophy
  • Fragile-X
  • BRCA1/BRCA2 (hereditary breast/ovarian cancer)

Can you use PGD to test for a chromosomal translocation?

A chromosomal translocation is a condition where a piece, or pieces, of one chromosome are attached to a different chromosome.

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 abnormalities.

If either partner carries a balanced translocation, we can use PGD with Array CGH to test each embryo for the presence of an ‘unbalanced translocation’.

This enables the selection and transfer of only chromosomally normal embryos, maximising the chance of a successful pregnancy and a healthy baby. 

Can you use PGD 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, PGD can be used to determine the gender of embryos, so only 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 for medical reasons.

Does the testing in PGD harm the embryo?

Not as far as we know. Current research shows that the likelihood of a biopsied embryo implanting is exactly the same as a non-biopsed 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 PGD.

How much does PGD cost?

An IVF cycle with PGD has three components of cost:

  • The cost of the IVF technique
  • The cost of the hospital stay
  • The cost of the PGD technology

PGD with Karyomapping for single gene disorders costs $700 per embryo with a maximum cost of $2460 for 6 or more embryos from a single IVF cycle.

PGD with Array CGH for Advanced Embryo Selection costs $700 per embryo with a maximum cost of $3995 for 6 or more embryos from a single IVF cycle.

There is no Medicare rebate associated with PGD. However your final costs may vary depending on your individual circumstances.

If you have any questions about the cost of preimplantation genetic diagnosis with IVF Australia please phone 18000 111 483 or email us.

Read more about the cost of IVF >

Want more information about PGD?

PGD testing 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.

If you know or suspect you have a genetic or chromosomal abnormality please come to a free fertility seminar or book an appointment with a fertility specialist.

Appointments are available within the next couple of weeks and will cost approximately $150 for a couple after the Medicare rebate.

Find out more about the costs of Pre-implantation Genetic Diagnosis...
Learn about Advanced Embryo Selection...
Find out more about Karyomapping...
Find out more about Non-Invasive Prenatal Testing...
Contact us for more information on PGD...

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