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Preimplantation Genetic Testing (PGT)

Preimplantation Genetic Testing (PGT)

PGT is a scientific method designed to test embryos for specific genetic or chromosomal abnormalities prior to implantation and pregnancy. PGT first involves a couple or an individual having an IVF cycle. Type-o: creating embryos and testing the embryo for a chromosomal abnormality or a specify genetic condition.


PGT for Monogenic Disorders (PGT-M)

Many people are known to be carriers of genetic disorders that they may not wish to pass onto their children. PGT-M can be used to test embryos for most monogenic disorders. Embryos that have a very low risk of developing the specific disorder that is being tested for can then be selected. These embryos can then be transferred to the woman’s uterus with the aim of establishing a healthy pregnancy.  At VirtusGenetics we use a highly sophisticated technology called Karyomapping to perform most of our PGT-M cases.


PGT-M can test for a very large number of monogenic conditions, including (but not limited to):

  1. Huntington Disease (either direct testing, or exclusion testing)
  2. Cystic Fibrosis
  3. Alpha and Beta Thalassemia
  4. Duchenne and Becker Muscular Dystrophy
  5. Fragile X
  6. Hereditary breast and ovarian cancer due to BRCA1/BRCA2 mutations


If there is a disease causing genetic variant has been  identified then it is highly likely that PGT-M can be offered to a couple/individual.


Exclusion Testing

Some people have a parent affected by a serious genetic condition, such as Huntington disease, that does not generally manifest until later in life. Many people do not want to have testing to determine if they have inherited that condition from their parent, however also do not want to risk passing it on to their own children.

PGD-M can be used to perform exclusion testing. This means that the genetic variant is not tested for but embryos are tested to make sure they have not inherited the ‘at risk’ gene from the member of the family who has the condition.


PGT- for Structural Rearrangements (PGT-SR)

PGT can be used to test for extra or missing pieces of chromosomes or structural rearrangements such as chromosome translocations and inversions.

In some people, part of one chromosome attaches to the end of another, or pieces of chromosomes may break off and be swapped around. In these cases the person will usually have a normal complement of chromosomes, but their embryos could inherit missing or extra pieces of chromosomal material. This is known as an  ‘unbalanced translocation’.

Embryos with unbalanced translocations usually do not implant, or if they do implant they are likely to miscarry. Very rarely, they may result in the birth of a child with birth defects and or neurodevelopmental problems. PGT can detect many forms of unbalanced translocations.

Sex Selection for Medical Reasons

Sex selection may be used if there is valid medical reason if there is a significant  risk of a genetic condition being more severe in in one or other sex.

In this case, sex selection may be able to be performed, with accompanying valid medical confirmation.

Sex selection is prohibited in Australia for family balancing.


PGT for Aneuploidy (PGT-A)

Having more or less than the full complement of 46  chromosomes  is called “aneuploidy”. Most embryos with aneuploidy will not implant or will miscarry early in a pregnancy. Less commonly an aneuploid embryo may result in the birth of a child with significant birth defects. PGT-A is identifies variations from the normal 46 chromosomes within a sample of cells taken from an embryo.

PGT-A is suitable for those patients:

  • where the women is over 38 years of age; and/or
  • who have a history of recurrnet miscarriage; or
  • who have experienced unsuccessful IVF; or
  • whose fertility specialist thinks they would benefit from PGT-A

Whether you should consider PGT-A depends on a number of factors and it is best to discuss your individual situation with your doctor.

For information regarding the costs of PGT-M, PGT-SR and PGT-A at VirtusGenetics, please contact 1800 090 325


Select a link below to download the appropriate information.
Information for Patients
PGT-Request Form

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