PGT is an advanced technique to test embryos created via IVF to identify familial single gene disorders or chromosomal changes. By utilising this testing, you can increase your chance of a healthy pregnancy.
Preimplantation Genetic Testing for Aneuploidy (PGT-A)
Aneuploidy, or the presence of an abnormal number of chromosomes, is a common issue in embryos, regardless of whether they were conceived naturally or through IVF. Preimplantation Genetic Testing for Aneuploidy (PGT-A) helps determine if an embryo contains the correct number of chromosomes, reducing the chances of failed implantation, miscarriages, or genetic conditions like Patau syndrome (Trisomy 13) and Edward syndrome (Trisomy 18). By excluding embryos with chromosomal abnormalities, PGT-A maximises the potential for a healthy baby.
You may benefit from PGT-A if:
You’ve had a previous pregnancy affected by a chromosomal abnormality
You are over the age of 35
You’ve experienced recurrent miscarriages
You’ve had multiple embryo transfers without success
Preimplantation Genetic Testing for Monogenic Conditions (PGT-M)
PGT-M is a targeted genetic test for embryos created via IVF when either partner carries a specific single gene disorder. After the embryos have developed to the appropriate stage, a few cells are taken and analyzed.
This testing allows families with a known genetic condition to reduce the risk of passing that it onto their children. Genea’s PGT team has expertise in screening for over 350 genetic conditions, both common and rare, such as cystic fibrosis, thalassemia, and Huntington disease.
PGT-M may be a suitable option for you if:
You or your partner have a personal or family history of a genetic disorder
You or your partner are carriers of a single gene disorder, such as spinal muscular atrophy or fragile X syndrome
It is important to note that PGT-M does not detect all genetic disorders, particularly when the genetic basis is unknown.
Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
In some individuals, the correct number of chromosomes is present, but their arrangement is altered. These chromosomal variations, known as balanced translocations or inversions, generally do not affect the individual’s health but can increase the risk of passing on an unbalanced chromosomal arrangement to offspring, which can lead to miscarriage, or result in a child with developmental or health problems.
Similar to PGT-A, Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) analyses embryos to ensure they contain the correct chromosome arrangement, maximising the chances of a healthy pregnancy for carriers of chromosomal rearrangements by selecting only balanced embryos for transfer.
If you have been diagnosed with a chromosomal rearrangement, PGT-SR may be a valuable tool for you.
How to Request Testing
If you believe PGT-M or PGT-SR may be appropriate for your situation, we will discuss this in your consultation. After reviewing your medical and family history we can determine whether PGT is the best option for you. If so, I will refer you to the Genea Genetics team for further evaluation and testing.
PGT-A can be requested by anyone, but it is generally your fertility specialist who will decide whether it’s suitable based on your reproductive history and then refer you for testing with Genea’s pathology team.
Why Genea?
I choose to utilise this testing option through Genea because their Preimplantation Genetic Testing (PGT) team has assisted countless families in optimizing their chances of having a healthy baby. They pioneered chromosome screening of embryos back in 1996, and by 1998, they were already offering testing for inherited single gene disorders. Genea’s PGT methods remain at the forefront of reproductive medicine globally, and Genea is one of the few clinics in Australia with integrated IVF and genetics laboratories, enabling us to perform advanced genetic testing efficiently and effectively without the need to send your samples off-shore.
Genea’s proprietary PGT assay tests embryos generated through IVF to identify both inherited single gene disorders and chromosomal abnormalities. By choosing embryos which have had genetic screening, you will increase the chances of a healthy ongoing pregnancy and birth of an unaffected child.
My mission is to provide exceptional fertility care, and make your dream family a reality.
If you are wanting to have a consultation, are looking at family planning or fertility assessment, book in a consultation.
