A blue shape representing an embryo

PGT-M

Preimplantation Genetic Testing for Monogenic or single gene defects is a technique that allows us to assess an embryo for genetic conditions known to run in your family, thus reducing the risk that these conditions will be passed on to your offspring. Formerly, PGT-M was known as preimplantation genetic diagnosis (PGD).

Why is the genetic material tested?

Each one of us has a genetic blueprint — an ‘instruction manual’ that makes us uniquely human and determines our individual characteristics. Small errors in this blueprint, otherwise known as genetic mutations, can result in a wide range of genetic diseases. Given we inherit our genetic blueprint from our parents, these genetic mutations and diseases may be passed on from parent to child.

What exactly is PGT-M?

PGT-M involves taking a biopsy of the embryo (5–7 cells from the outer layer) after it has grown and developed for 5–6 days. From this sample, we can analyse the genetic material of the embryo and determine whether a genetic mutation is present in the DNA or not. In doing so, we can prevent the transfer of embryos that have the genetic mutation.

What are the risks of PGT-M?

PGT-M does carry some risks, including:

Risk of harm to the embryo

Embryos are fragile, so any procedure that involves handling the embryo and disturbing its surrounding conditions poses the risk of harm. However, while the risk of harm will always exist, it is thought that the overall risk of damage to the embryo is minimal.

Non-indicative sample

When we conduct testing on a sample of cells from the embryo, we are assuming that this sample is representative of all the cells in the embryo. However, a condition called mosaicism may exist, where some of the embryo’s cells have the genetic mutation and some of the cells do not. Testing of embryos that display mosaicism can result in an inaccurate or unclear test result.

Indeterminate results

The results of the genetic testing may return as ‘indeterminant’, meaning the test could not determine whether the genetic material of the embryo was normal, or abnormal. This may occur for a variety of reasons, including a poor-quality embryo.

Who do we recommend PGT-M for?

We may recommend PGT-M when a genetic disease, such as haemophilia, thalassaemia and cystic fibrosis, runs in the family and it has been determined that the offspring could be severely affected. This may be determined with the help of a genetic counsellor and geneticist. Feasibility testing is also required prior to PGT-M to see if your particular genetic condition and variant can be tested for. Your Newlife IVF fertility specialist will assess the specifics of your situation with you and make a recommendation accordingly.

What does it cost?

At Newlife IVF, PGT currently costs $699 per embryo. Feasibility testing costs $1800.*

*Fees correct as of 1 August 2019.

 

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