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PGT

What is Preimplantation Genetic Testing (PGT)?  

Pre-implantation Genetic Testing, or PGT, is a highly specialised laboratory procedure that enables us to check an embryo for chromosomal and genetic abnormalities.  

PGT enables us to identify the genetically normal embryos to use for treatment.  There are three different types of PGT:  

PGT-A

PGT for Aneuploidy is used to check that the embryo has a normal number of chromosomes.  Sometimes, the cells in an embryo can gain an extra copy of a chromosome (trisomy), lose a copy (monosomy) or have more complicated rearrangements, gains or losses.  These embryos are abnormal and are known to be ‘Aneuploid’.   

The most recognised example of aneuploidy is an extra copy of chromosome 21 (trisomy 21), more commonly known as Down Syndrome.  Embryo aneuploidy can be responsible for recurrent implantation failure (multiple embryo transfers with no success), and is the primary cause of miscarriage and early pregnancy loss. 

PGT-M

PGT for Monogenic / Single Gene Disorders is used to test embryos for genetic abnormalities involving a single human gene and/or when a segment of one chromosome is transferred to another chromosome.  A common example of these includes the breast cancer genes BRAC1 or BRAC2, or changes in the HTT gene, causing Huntington’s Disease.  Other single gene disorders include Thalassaemia, Cystic Fibrosis, Haemophilia, Spinal Muscular Atrophy and Fragile X Syndrome. 

PGT-SR

PGT for Chromosomal Structural Rearrangements is utilised to identify embryos in which the structure of a chromosome has been altered – this can result in missing or extra genetic information in the embryo which may result in failed embryo development, failed embryo implantation or a higher chance of miscarriage. 

What does PGT involve? 

Preimplantation Genetic Testing must take place during an IVF or ICSI treatment cycle.   

Once your embryos are 5 or 6 days old, our Embryologists will very carefully remove 5 to 10 cells, which are then tested for abnormalities using PGT-A, PGT-M or PGT-SR. 

The embryos that are identified as normal or unaffected can then be used for treatment. 

What are the risks of PGT? 

The embryo biopsy procedure itself is considered safe and is not known to be associated with any increase in birth defects when compared with children born following fertility treatment without embryo biopsy. 

PGT is not capable of testing for non-genetic, congenital birth formations, such as Spina Bifida or cleft lip/palate.

Who is PGT suitable for?

The use of Preimplantation Genetic Testing in Western Australia is regulated by law, so it can only be used in specific instances.   

PGT may be recommended by your doctor if you: 

  • Are known to carry a genetic or chromosomal condition. 
  • Are of advanced maternal age (> 35 years).
  • Have had repeated, unsuccessful attempts with IVF, ICSI and / or FET. 
  • Have experienced recurrent miscarriage. 

How can we help you? 

Here at Fertility North, we work closely with Genetic Services of WA to ensure that our patients are educated and counselled about their specific genetic conditions, allowing you to make informed decisions before you embark on PGT treatment. 

Once your Doctor has recommended PGT, you will liaise closely with our PGT Coordinator who will guide you through each stage of this process. 

For the costs associated with Pre-implantation Genetic Testing, along with a comprehensive overview of all of our treatment costs, please head over to our Fees page. 

To arrange an appointment or to find out more, please contact the team at Fertility North.