Genetic Testing and Preimplantation Genetic Testing (PGT)

Preimplantation genetic testing allows prospective parents to assess the genetic health of embryos before implantation during an IVF cycle.

Genetic Testing and Preimplantation Genetic Testing (PGT)

Genetic testing before pregnancy can improve outcomes

PGT doesn’t change the IVF process itself, but it adds a layer of information that can be invaluable in deciding which embryo to transfer. For some patients it offers reassurance. For others, particularly those with a known genetic condition or a history of recurrent miscarriage, it can be the difference between repeated unsuccessful cycles and a successful pregnancy.

Dr Rozen has access to PGT through Genea Fertility, one of the few fertility service providers in Australia with both IVF and genetic facilities onsite. Genea has been performing chromosomal screening of embryos since 1996, making them one of the most experienced providers of this technology in the country.

How does PGT work? 

PGT involves extracting one or more cells from an embryo in the early stages of development and using this to conduct a detailed genetic analysis. The results identify embryos most likely to result in a successful pregnancy and also screen for specific genetic conditions before transfer. It is performed as part of an IVF cycle and does not require a separate procedure for the patient.

Patient testimonial – Dr Genia Rozen fertility specialist

“PGT has genuinely changed what is possible for patients facing recurrent miscarriage or a known genetic condition. Having access to Genea’s genetic testing facility means my patients benefit from some of the most experienced and advanced screening available in Australia.”

– Dr Genia Rozen, Fertility Specialist, Genea Melbourne City and Frankston

What are the different types of PGT?

PGT-A – preimplantation genetic testing for aneuploidy 

PGT-A identifies embryos with the correct number of chromosomes. Chromosomal abnormalities, known as aneuploidy, are one of the most common causes of failed implantation and miscarriage. By selecting chromosomally normal embryos for transfer, PGT-A can increase the chances of a successful pregnancy and reduce the risk of miscarriage and chromosomal conditions such as Down Syndrome.

PGT-M – preimplantation genetic testing for monogenic disorders 

PGT-M is used when there is a known risk of passing on an inherited single-gene condition, such as cystic fibrosis or Tay-Sachs disease. It allows couples to identify embryos unaffected by the condition before transfer, reducing the risk of passing the disorder on to their child.

PGT-SR – preimplantation genetic testing for structural rearrangements

PGT-SR is used in cases where one or both partners carry a chromosomal structural rearrangement. It ensures that embryos selected for transfer are unaffected by these anomalies, improving the chances of a successful pregnancy.

Who might PGT be recommended for?

  • Patients with a history of recurrent miscarriage, where chromosomal abnormalities in embryos may be a contributing factor
  • Couples with a known inherited genetic condition they wish to avoid passing on to their child
  • Individuals who have undergone reproductive genetic carrier screening and identified a significant risk of passing on an inherited genetic condition, where PGT-M may be recommended to select unaffected embryos before transfer 
  • Women of advanced maternal age, where the risk of chromosomal abnormalities in embryos is higher
  • Patients with a history of recurrent IVF failure where implantation has not occurred
  • Individuals or couples where one partner carries a chromosomal structural rearrangement

Key considerations before choosing PGT

While PGT can significantly improve the likelihood of a healthy pregnancy for the right patients, it is important to approach it with realistic expectations. PGT cannot screen for all possible genetic conditions, and a normal PGT result does not guarantee a successful pregnancy or a completely healthy child. There are also ethical considerations that some patients may wish to discuss before proceeding. Dr Rozen takes the time to ensure every patient has a thorough understanding of what PGT can and cannot tell them before recommending it as part of a treatment plan.

Frequently Asked Questions

PGT is recommended based on individual circumstances, including history of miscarriage, recurrent IVF failure, advanced maternal age, or a known genetic condition. Dr Rozen will advise on whether PGT is appropriate as part of a thorough assessment.

The process involves extracting one or more cells from the embryo at an early stage of development. While this is a carefully performed procedure, it is worth discussing the potential risks and considerations with Dr Rozen before deciding to proceed.

Dr Rozen accesses PGT through Genea Fertility, one of the few services in Australia with both IVF and genetic facilities onsite. Genea has been performing chromosomal screening of embryos since 1996, making them one of the most experienced providers of this technology in the country.

Get started today

Book an appointment with Fertility Specialist Dr Genia Rozen at her East Melbourne or Frankston consulting rooms to begin your journey.

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