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

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Genetic Testing PGD

Our genetic team works with patients who are at risk of a variety of inherited conditions, including birth defects and genetic disorders.

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

Pre-implantation Genetic Diagnosis (PGD) is a highly sophisticated scientific technique to test embryos for specific genetic or chromosomal abnormalities. It enables the selection of unaffected embryos prior to implantation and pregnancy.

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:

  • risk of having a child with an inherited genetic condition
  • either partner has a known family history of chromosome rearrangement
  • previous chromosomal abnormality in a pregnancy
  • advanced maternal age (usually to test for Down syndrome where the mother is over 38 years old)
  • recurrent miscarriage
  • repeated embryo transfers without pregnancy
  • if you would find it difficult to consider termination of an affected pregnancy

What does PGD involve?

In PGD testing, one or two cells are removed from an embryo and tested for a specified condition, such as cystic fibrosis or Down’s syndrome. Only those embryos diagnosed as being unaffected or free of a specific disorder will be transferred in the IVF cycle, 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)

Testing for 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.

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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