Pre-implantation genetic testing: PGD and PGS

Preimplantation genetic diagnosis (PGD) is the term commonly used to group different techniques that allow our scientists to look at the genetic information of the embryos before they are transferred to the uterus. This allows Genea Hollywood Fertility scientists to base the choice on the results of genetic tests of the embryos to exclude those that contain an obvious genetic abnormality. They include:

  • Preimplantation Genetic Diagnosis - Polymerase Chain Reaction (PGD-PCR):
    For hereditary conditions where a single gene mutation is known to be present in the family and the couple would not want the condition to be transmitted to their children
  • Preimplantation Genetic Screening (PGS):
    Testing involves a count of the total number of chromosomes in order to avoid abnormal pregnancies and/or miscarriages.

Either way, the testing can maximise the potential of a genetically normal pregnancy and having a baby.

Genea Hollywood Fertility in liaison with Genea is one of the very few centres in Australia with the vital combination of IVF and genetics facilities to successfully perform these sophisticated tests.

GeneSure™ A faster way to a baby

In close association with world leading fertility group Genea, the full in-house GeneSure™ technology offers a faster way to a baby. And it’s more affordable than you think.

We all want a healthy baby, one who grows into a healthy child. Unfortunately, in some cases it’s not always how things turn out. Certain genetic conditions can cause birth defects or start to show up as a child develops and certain factors, such as knowing you have a family history of a genetic disease or being of advanced maternal age, can also increase the likelihood of your baby being affected. Genea’s world leading GeneSure Preimplantation Genetic Diagnosis (PGD) is a way of reducing or removing that risk. 

In Australia, Genea led the way in investigating and developing PGD in Australia and our expertise and techniques are amongst the best in the world. They first launched chromosome testing of embryos in 1995 and expanded that treatment to offering single gene testing in 1998.

How does GeneSure enhance my IVF cycle?

In a standard IVF treatment, every time a cycle produces more than one embryo, our Embryologists must make a choice about which embryo will be transferred. That choice is determined by the development and appearance of the embryos, usually over a five day period.

With Genea’s GeneSure technology, our scientists analyse your embryos using advanced scientific techniques to assess their genetic make-up and therefore rule out embryos that contain an obvious genetic abnormality. This assessment can involve either a count of the chromosomes in each embryo and/or a molecular examination for a particular gene or mutation, these factors ultimately decide the health and potential of a pregnancy and any resulting baby.

PGD/PGS with Genea’s GeneSure technology can maximise the potential of a genetically normal embryo being selected, implanting successfully, carrying and delivering a baby.

If you’re considering IVF, PGD could be an important part of the equation towards you achieving your dream faster.

Can we benefit from PGD with Genea’s GeneSure?

PGD is recommended for you if you:

  • or your partner are affected by or carry a known genetic disease
  • are of advanced maternal age
  • have had recurrent miscarriages
  • have had a number of failed embryo transfers
  • want to prevent the transmission of a sex-linked genetic disease

GeneSure can maximise the potential of a genetically normal embryo being selected, implanting successfully, carrying and delivering a baby in a single cycle. If you would like more information please call and speak with our Fertility Advisor or discuss your options with your Fertility Specialist.

In detail: How you could benefit from PGD with Genea’s GeneSure

PGD is recommended for you if you:

or your partner are affected by or carry a known genetic disease

If you know you carry a serious genetic condition, genetic testing of your embryos before implantation is an effective and logical way to avoid passing that condition onto your future children.

For example, when two cystic fibrosis carriers conceive a child, there is a 25 per cent chance that the baby will have cystic fibrosis, a 50 per cent chance that the baby will be a carrier and a 25 per cent chance that the baby will be unaffected. IVF with PGD allows the couple to produce a number of embryos, but to transfer only those that are either unaffected by the condition or carriers.

Genea has developed the largest range of tests in Australia - for more than 200 inherited diseases. Custom tests are designed just for you and can be developed for any single gene disorder.

are of advanced maternal age

It’s an unfortunate fact of reproductive science that the frequency of chromosomal abnormalities - that’s when your embryo is missing a chromosome or carrying an extra one - increases with maternal age. These chromosomal abnormalities can cause your embryo to fail to implant or miscarry or they might result in a baby born with developmental problems or a serious genetic condition such as Down Syndrome.

Our Scientists use a form of PGD to screen your embryos in order to find those that have a balanced chromosome set and are therefore genetically healthy. The good news is that our PGD results show that following the transfer of a genetically healthy embryo, pregnancy rates among older women do not differ greatly to those achieved by women in younger age groups.

have had multiple miscarriages

Random chromosome problems are thought to be the cause of the majority of miscarriages – what happens is that a genetically abnormal embryo implants in the uterus, but is destined to fail. Unfortunately miscarriages are not uncommon with approximately one in five pregnancies ending in a miscarriage. However, due to advanced maternal age or a number of other possible factors, some women are more prone to miscarriage. If you’ve experienced multiple miscarriages, considering PGD as part of your treatment may be the best way to achieve your goal.

Our scientists use Next Generation Sequencing (NGS) to screen your embryos to discover which ones have the correct number and sequence of chromosomes, to avoid the genetic faults that could be causing them to miscarry. We then only go on to transfer genetically healthy embryos.

have had a number of failed embryo transfer

Perhaps the problem you’re facing is that your IVF cycles are not working because your embryo fails to implant after the transfer. If this has happened a couple of times, your Fertility Specialist may recommend PGD.

Once again, to identify possible chromosome problems, Genea Scientists will use one of our complete chromosome screening processes to test your embryos for chromosome abnormalities before implantation. Only embryos that have the correct number of chromosomes will be selected for transfer.

want to prevent the transmission of a sex-linked genetic disease

Using PGD to select the sex of your embryo is only allowed in Australia if the testing is being used to avoid passing on a specific sex-linked genetic disorder to a child.

The National Health and Medical Research Council’s Assisted Reproductive Technology Guidelines restrict the use of PGD for sex selection in Australia. (See sections 11 and 12 of the ART Guidelines). For more information on this please contact us.

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