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The Fertility Forum is exclusively made available to IVF Australia patients, to allow them to share their experiences and support each other through their fertility treatments.

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This section of the IVF Australia website is made exclusively available to GPs, Obstetricians and Gynaecologists.

For more information, please contact us.

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Genetic Testing PGD

Our genetic team works to support patients who are at risk of a variety of inherited conditions.

IVFAustralia’s Genetic Counsellor can help you with information about these risks, and support you with any decisions you make. As part of this, genetic testing may be recommended. 

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD) is a sophisticated scientific technique which can test embryos for specific genetic disorders. This enables the selection of embryos so that only unaffected embryos are transferred.

IVFAustralia offers an internationally recognised PGD program, managed by Australia’s leading PGD scientist Dr Leeanda Wilton. The program has helped hundreds of couples conceive healthy babies, many after long periods of infertility or with serious genetic diseases in the family.

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 may affect health of a future child
  • 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 embryo transfers without pregnancy

What does PGD involve?

In PGD, the woman goes through a standard IVF cycle. While the embryos are in the IVF laboratory, a few cells are removed from each embryo and tested in one of two ways.

If the problem is a single gene disorder, the specific gene will be tested by karyomapping. Sometimes this technology can also detect whole chromosome abnormalities but not always.

The chromosomes in the embryo can be tested by the technique of Array PGD. This gives important information about the chromosomes in the embryo and ensures that only embryos with normal chromosomes are transferred thus maximising the chance of a healthy baby.


What can PGD test for?

We are able to test for a very large number of single gene disorders, including:

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

NEW Karyomapping for single gene disorders

Faster, more comprehnsive results

Now available at IVFAustralia, patients can have their embryos tested using new karyomapping technology for pre-implantation genetic diagnosis.

This technology is a huge advancement for couples who are carriers of a specific genetic condition and who wish to avoid passing on a potentially serious disorder to their children.

In the past, testing for a single gene disorder required the development of specific genetic sequences for the exact gene mutation for each carrier. This approach could take up to six months to complete, with enormous stress experienced by the couples involved due to the wait and expense.

Karyomapping takes a different approach which uses DNA finger-printing techniques to identify whether the embryo has inherited the good gene or the bad gene. This avoids the long delays and the added costs in developing specific gene sequences for each mutation. 

This means that the actual IVF treatment cycle can begin almost immediately.

We are the first group in Australia to offer karyomapping and are delighted to announce that it is now available to all our patients. 

Can you test for chromosomal translocation?

If either partner carries a balanced translocation (where parts of the chromosome are broken off and rearranged), we can test an embryo for an ‘unbalanced translocation’ (where part of a chromosome will be missing) using a specific technique known as FISH (Fluorescent In-Situ Hybridisation Testing).

Embryos with unbalanced translocations usually miscarry, or are born with severe abnormalities.

If you or your partner have a serious inherited genetic disease, or would like to consider PGD for any other reason, your specialist will refer you to our PGD team.

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. 

Want more information?

If you know or suspect you have a genetic or chromosomal abnormality please come to a free information night 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. 

Fertility Science - PGD/CGH

The use of advanced scientific fertility treatments (PGD or CGH) to overcome inherited genetic disorders, recurrent miscarriage, or repeated IVF failure.

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