Preimplantation Genetic Testing

What is preimplantation genetic testing (PGT)?

Preimplantation genetic testing, previously known as PGD or preimplantation genetic diagnosis, is a technique used to test embryos created as a result of IVF treatment. This testing is performed to test for both specific known gene conditions (PGD) and chromosomal variation (PGS or preimplantation genetic screening).

By performing a preimplantation genetic test, we can identify healthy, ‘normal’ embryos and select these for transfer, thus increasing the chance of conceiving a healthy baby.

Any couple undergoing IVF treatment has a high chance of chromosomal errors. Therefore, you may wish to undergo embryo screening for these chromosomal errors in order to make sure you are only transferring healthy embryos, which have an increased chance of being successfully implanted and carried to term.

In all of these cases, preimplantation genetic testing is a valuable tool to help couples conceive healthy babies. At Dr Anthony Marren’s practice, we use these advanced techniques to give you the best chance of getting pregnant and having a healthy offspring.

Do I need preimplantation genetic testing?

As part of thoroughly investigating your fertility issues, we provide information on carrier screening for specific genetic conditions. If you and/or your partner are found to be carriers for a genetic disorder, we can discuss the options for PGT to see whether your embryos are affected by these conditions.

If you and/or your partner already know that you are a carrier of a genetic condition, PGT testing can be performed to see whether an embryo is affected.

Does Medicare cover preimplantation genetic testing costs?

For some types of preimplantation genetic testing, a Medicare rebate is now available, provided that patients meet the Medicare criteria. These tests include:

  • PGT-M testing (monogenic) for potential carriers of recessive, autosomal dominant, or mitochondrial disorders
  • PGT-SR testing (structural rearrangements) for couples who may pass on chromosomal rearrangements
  • PGT testing for sex selection for couples at risk of passing on X-linked disorders
  • Some contribution towards the costs of both embryo biopsies and Karyomapping/ PCR evaluation (which is required for PGT-M testing and some PGT-SR testing)

For couples who are not known carriers for a genetic risk or chromosomal disorder, PGT testing is not generally covered by the Medicare rebate.

What are the different types of preimplantation genetic testing in Australia?

In order to ensure the best possible outcome in your fertility journey, there are several types of testing available for couples in different situations.

Preimplantation genetic diagnosis (PGD)

Preimplantation genetic diagnosis is often used by couples who may not have an infertility issue but know they carry a serious genetic disorder. Through screening, PGD can rule out embryos with disabling conditions without prevention or cure, such as Huntington’s disease, cystic fibrosis, thalassaemia, Duchenne muscular dystrophy and fragile-X syndrome.

Preimplantation genetic screening (PGS)

For couples struggling with infertility and may have had an unsuccessful embryo transfer in the past, PGS assesses embryos to ensure that they have the correct number and order of chromosomes to reduce the risk of miscarriage and improve the chances of a successful pregnancy.

Dr Anthony Marren — exceptional fertility specialist you can trust

At Dr Anthony Marren, we treat every couple with a comprehensive and evidence-based approach that takes into account the emotional side of your fertility journey as much as the medical side. All of our fertility treatments are designed to meet your personal healthcare needs.

Trust us to take the time to understand your infertility issues and find the best possible solution to give you the family you’ve always wanted. Set an appointment today, and see how Dr Anthony Marren can help you and your partner.

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