Preimplantation Genetic Testing

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, and endorsed by Council, this List will be updated. 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):

Conditions on the Approved Conditions List

Council approval is not required for PGT-M for a condition included on the Approved Conditions List. Clinics must retain appropriate supporting documentation, including diagnostic testing, relevant consent documentation, feasibility studies where applicable, and a letter from a clinical geneticist or genetic counsellor identifying the condition, condition type and OMIM number.

Conditions not on the Approved Conditions List

Council approval is required for PGT-M for a condition that is not included on the Approved Conditions List.

Applications must be submitted using the REDCap PGT application form and should include:

  • a cover letter;
  • a letter from a clinical geneticist or genetic counsellor identifying the condition, condition type and OMIM number;
  • details of PGT-A, where this is also proposed; and
  • feasibility studies, where required.

Preimplantation genetic testing for structural rearrangements (PGT-SR):

  • An application to Council for PGT-SR is not required for translocations and other chromosomal abnormalities known to cause recurrent pregnancy loss or developmental defects. Clinics must retain appropriate records, including diagnostic testing, feasibility studies, consent documentation, and a letter from a clinical geneticist or genetic counsellor detailing the chromosomal abnormality.
  • An application to Council is required where there is limited or insufficient evidence to support PGT-SR for participants seeking testing. This may include cases involving chromosome duplications, microdeletions, insertions or inversions that have low penetrance or are classified as variants of uncertain significance. If PGT-SR is still sought, the application must include a cover letter, a letter from a clinical geneticists or genetic counsellor detailing the chromosomal abnormality and, where relevant, PGT-A and feasibility studies, where required. Applications to be submitted using the REDCap PGT application form

Preimplantation genetic testing for aneuploidy (PGT-A) only:

An application to Council is not required where the person providing the oocytes (eggs):

  • is 35 years of age or older;
  • has experienced two or more miscarriages;
  • has experienced three or more unsuccessful IVF attempts following embryo transfer, whether fresh or frozen; or
  • has been referred by a clinical geneticist because of a family history of aneuploidy.

An application to Council is required where the person does not meet any of the above criteria.

Applications must be submitted using the REDCap PGT application form.

The application should include:

  • a cover letter; and
  • a letter from a clinical geneticist or genetic counsellor outlining the clinical circumstances and the reason PGT-A is being requested.

Important Links:

REDCap PGT application form

Preimplantation genetic testing applications to RTC – Guidelines for clinics