Genetic Testing

Genetic testing (PGD)

Pre-implantation Genetic Diagnosis (PGD) is a highly sophisticated scientific technique to test embryos for specific genetic abnormalities prior to implantation.

 

Melbourne IVF’s preimplantation genetic diagnosis programme is managed by Dr Leeanda Wilton who has long been Australia’s leading scientist in PGD, having been part of the team responsible for developing the first single cell FISH (Fluorescent in-situ Hybridisation) technology for PGD in London in the late 1980s, and then the first PGD programme in Australia in the 1990s. 

Our internationally recognised PGD program continues to lead the development of genetic testing in Australia.

Since its introduction, Melbourne IVF’s PGD program has helped hundreds of couples conceive healthy babies.  Many of these conceptions have been after long periods of infertility while others have been for couples with serious heritable diseases in the family.

 

What is PGD?

PGD is a method of testing embryos for specific genetic and chromosomal abnormalities enabling selection of "normal" (that is, not affected by the condition being tested for) embryos prior to transfer.  One or two cells are removed from a day 3 embryo and tested for conditions such as cystic fibrosis and Down syndrome. 

The embryos are tested in a number of different ways, depending on the particular problem being investigated.  At Melbourne IVF, the testing is performed on day three embryos (that is, on the third day after egg collection). 

 

Who should consider PGD?

Couples who have a serious inherited genetic condition, or a family history of such, or who are at a higher risk of having chromosomal abnormalities in their embryos may consider PGD, for example:

  • Patients who are at risk of having a child with an inherited genetic condition eg: haemophilia, thalassaemia, cystic fibrosis
  • Known history of balanced translocation (a chromosome rearrangement) in one or other of the couple
  • Previous chromosomal abnormality in a pregnancy
  • Advanced maternal age (usually to test for Down syndrome and similar conditions where the mother is aged greater than 38 years)
  • Recurrent miscarriage (repeated early pregnancy loss)
  • Implantation failure (repeated embryo transfers without pregnancy)
  • Preimplantation testing, which occurs before transfer of embryos, has many advantages for a couple who would find it difficult to consider termination of an affected pregnancy

 

Why consider PGD?

Preimplantation testing, which occurs before transfer of embryos, has many advantages for a couple who would find it difficult to consider termination of an affected pregnancy.

 

The PGD Team

Dr Leeanda Wilton, Scientific Director of Preimplantation Genetics at Melbourne IVF, brings a wealth of experience, knowledge and expertise to the program, having been part of the team responsible for developing the first single cell FISH (Fluorescent In-Situ Hybridisation) technology in London the late 1980s, and in establishing the first PGD program in Australia at Melbourne IVF in the 1990s.

Dr Wilton is supported by a team of nine scientists and a dedicated PGD nurse who work closely to develop and implement the PGD testing for Melbourne IVF, and our sister IVF clinic, IVFAustralia, located in Sydney.
 

Melbourne IVF PDG Team
Some of the PGD Team

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Trying to Have a Bay

Undergoing Ferility Treatment