Preimplantation genetic testing (PGT) refers to a range of techniques that are used to test high risk embryos for gene disorders or chromosomal abnormalities.
PGT is not part of a routine assisted reproductive technology treatment cycle and requires approval from the Reproductive Technology Council (Council) if:
- the embryo is for use in the reproductive treatment of a woman; and
- based on existing scientific and medical knowledge:
- the procedure is unlikely to leave the embryo unfit for implantation; and
- where, for genetic testing, there is a significant risk of serious genetic abnormality or disease being present in the embryo.
Recent changes to Preimplantation Genetic Testing applications for preapproved conditions
In 2024, the Council expanded the pre-approved list of genetic conditions (including structural arrangements). Assisted Reproductive Technology clinics are able to undertake testing with eligible patients without the need to seek further Council approval.
The current list is available here Approved Conditions List for PGT
As future PGT applications are approved by the PGT Committee, this List will be updated with more preapproved conditions, please check it regularly on this webpage.
The OMIM number should be identified by the clinical geneticist or genetic counsellor and stated in the patient records.
Preimplantation genetic testing for monogenic disorders (PGT-M):
- an application to Council is not required for a condition on the Approved Conditions List, however clinics must keep good records of all diagnostic testing, feasibility studies, consents and clinical geneticists or genetic counsellor letters that include the condition and type (and OMIM number).
- an application to Council for a condition not on the Approved Conditions List, is required by way of the usual process. This includes submitting a cover letter, clinical geneticists or genetic counsellor letter that includes the condition and type (and OMIM number) and PTG-A (if included) and feasibility studies if required using the REDCap PGT application form
Preimplantation genetic testing for structural rearrangements (PGT-SR):
- an application to Council for PGT -SR is not required for translocations and other chromosomal abnormalities that cause repetitive pregnancy failure or developmental defects. Clinics must keep good records of all diagnostic testing, feasibility studies, consents and clinical geneticists or genetic counsellor letters that include details on the chromosomal abnormality type.
- an application to Council is required for cases with chromosome duplications, microdeletions, insertions and inversions that may have a low penetrance and be a variant of unknown significance, if PGT is still sought. This includes submitting a cover letter, clinical geneticists or genetic counsellor letter that includes the details on the chromosomal abnormality and PTG-A (if included) and feasibility studies if required using the REDCap PGT application form
Preimplantation genetic testing for aneuploidy (PGT-A) ONLY:
- an application to Council is not required when the patient providing the eggs:
- is greater than 35 years of age
- has experienced two or more miscarriages
- has experienced three or more failed IVF attempts after embryo transfer (fresh or frozen)
- has been referred by a geneticist and has a family history of aneuploidy.
- an application to Council is required if a woman does not meet the above criteria. This is by way of the REDCap PGT application form. This includes submitting a cover letter, clinical geneticists or genetic counsellor letter that includes the reason for PGT-A to PGD@health.wa.gov.au
Important Links:
Preimplantation genetic testing applications to RTC – Guidelines for clinics