Pre-implantation Genetic Diagnosis (PGD)

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PGD Services offered at Monash IVF

Monash Reproductive Pathology and Genetics offers embryo biopsy and preimplantation genetic diagnosis (PGD) for couples who are at risk of producing embryos with specific genetic abnormalities.

Embryo biopsy and PGD involves removal of 1-2 cells from day 3 embryos and testing them for genetic abnormalities.  PGD testing may be appropriate for:

• Couples at risk of passing a single gene disorder on to their children
• Couples at risk of having children with a particular X-linked disorder
• Couples where one partner carries a balanced chromosomal translocation
• Couples with advanced maternal age (>36)
• Couples who have experienced repeated miscarriage
• Couples who have experienced repeated IVF failure
• Couples who have previously had a pregnancy with a chromosomal abnormality
  

Monash IVF is one of a few centres in Australia that specialises in this area of reproductive medicine.  We have a very high PGD success rate.  Monash IVF has performed over 1000 PGD cycles and has contributed to 8% of PGD births worldwide.  All of our PGD testing is performed in house at Monash IVF by a highly specialised genetics team.  While the main PGD laboratory is located in Clayton, Melbourne, embryo biopsy can be performed away from the Melbourne laboratory and the embryonic cells (called blastomeres) sent by courier to Clayton. Centralising the genetic testing enables clients to access the highest levels of expertise without having to leave their home state.

Current PGD services at Monash IVF include tests for:

• Single gene disorders
  Couples at high risk of passing on a single gene disorder to their children can now consider PGD as a viable alternative to prenatal diagnosis for having a healthy baby.  The main advantage of PGD is that it prevents couples from having to undergo the difficult decision of whether or not to terminate an affected pregnancy.  Couples choose PGD over prenatal diagnosis for many reasons, including an objection to termination of pregnancy, previous pregnancy terminations or the loss of a child from the disease in question.  Monash IVF has performed PGD for approximately 30 different single gene disorders, including the following:

Monash IVF is able to develop tests for other genetic disorders upon request.  If the disorder you are interested in is not listed please contact Monash IVF for further information.

• Sex selection for X-linked disorders
  X-linked disorders (eg: Haemophilia A, Alport’s Syndrome and OCT deficiency) are caused by mutations on the X chromosome.  As the X chromosome is one of the sex chromosomes, the possibility of a particular embryo being affected is dependent upon whether the embryo is male or female.  This type of testing involves identifying the sex of the embryo rather than the particular genetic condition.  For most conditions, female embryos (which can be normal or carriers of the condition) will be selected for transfer.  Male embryos (which can be carriers or affected by the condition) will be frozen if they reach the appropriate developmental stage. 
• Chromosomal translocations
  Chromosomal translocations involve rearrangement of the chromosomal material.  Carriers of a translocation may experience difficulties with reproduction due to the generation of chromosomally unbalanced embryos.  As a result, these couples may have experienced difficulty conceiving or multiple miscarriages.  This type of testing involves analysis of the chromosomes involved in the translocation and can distinguish between normal/balanced embryos (which have the potential to produce a healthy baby) and unbalanced embryos (which would not implant, would miscarry or would give rise to an affected baby). 
• Chromosomal aneuploidy
  Chromosomal aneuploidy is a term used to describe irregularity of chromosome number (eg: the loss of one chromosome or the presence of an extra chromosome).  Normal embryos should inherit one copy of each chromosome from each parent and therefore have two copies of each chromosome.  Chromosomal irregularities are due to errors in cell division. Embryos with an aneuploidy are unlikely to lead to a successful ongoing pregnancy and couples at risk of producing aneuploid embryos may experience infertility.  This type of testing screens for common chromosome irregularities (involving chromosomes X, Y, 13, 15, 16, 18, 21 and 22).  This testing may be appropriate for:
  • Couples with advanced maternal age (>36)
  • Couples who have experienced repeated miscarriage
  • Couples who have experienced repeated IVF failure
  • Couples who have previously had a pregnancy with a chromosomal abnormality

How do I get started?
If you are interested in PGD, please feel free to discuss this procedure with your IVF doctor or with a member of the genetics team at Monash IVF. 

Genetic counselling may help you and your partner decide whether or not PGD is the right option for you. The counsellors and clinical geneticist's professional expertise enable them to thoroughly review your genetic history, arrange further clinical and DNA testing to confirm genetic status and offer guidance and support at all times to alleviate any anxiety. Following counselling, you should be aware of the relative risks of embryo screening and possible outcomes, placing you in a sound position to make an informed decision about PGD.  Monash IVF offers consultations with clinical geneticists and genetic counsellors. Please contact use for additional information.

The Monash IVF genetics team has been expanded to include many highly qualified experts in PGD and provide the highest quality of care to patients. This enlarged team means that treatment is available in a timely fashion and you will not be required to wait before the team can assess the possibilities of designing a unique genetic test just for you.