Preimplantation Genetic Testing

Passing on genetic disorders can be a concern if you are trying to conceive.

Preimplantation Genetic Diagnosis (PGD) or Preimplantation Genetic Screening (PGS) are highly sophisticated scientific techniques developed to test embryos for specific genetic or chromosomal abnormalities prior to implantation and pregnancy.



Preimplantation genetic diagnosis (PGD) with Karyomapping is a highly sophisticated scientific technique to test embryos for the presence of a single gene disorder. This allows only embryos that are not affected by a specific disorder to be selected for embryo transfer during an IVF cycle, preventing the condition from being passed on to any future children.

Karyomapping can test for a large number of single gene disorders including:

  • Huntingtons’ disease
  • Cystic fibrosis
  • Thalassaemia
  • Duchenne muscular dystrophy
  • Fragile-X
  • BRCA1/BRCA2 (hereditary breast/ovarian cancer)

Single gene PGD is only possible where the exact gene mutation, causing the problem, has been identified.

There are some disorders where, although it is apparent from the family history that is cause is genetic, the exact gene is simply not known.

In this case, single gene PGD cannot help. Most couples with a single gene disorder will be able to have PGD with Karyomapping


The cost of PGD with Karyomapping for single gene disorders is $1,640 for the preliminary evaluation plus $700 per embryo tested with a maximum fee of $2,460 for six or more embryos from one stimulated IVF cycle.



 If Karyomapping is not suitable, you will still be able to undergo PGD using the traditional PCR methodology.

The PCR methodology requires the development of individual gene sequences that can be matched with the exact mutation that you are carrying. The preparation of these individual gene sequences for this technique requires a further three to six months as well as additional costs.

If you have already paid for your Karyomapping evaluation, this cost will be discounted from the total cost of your PCR gene sequence preparation.



Some people have a parent affected by a serious genetic condition, such as Huntington’s 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 do not want to risk passing it on to their own children.

PGD with Karyomapping can be used to perform exclusion testing. In exclusion testing the genetic error 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.



 In some people, part of one chromosome attaches to the end of another, or pieces of chromosomes may break off and be swapped around so although that person has a normal complement of chromosomes their embryos could inherit missing or extra pieces of chromosome. This is known as ‘unbalanced translocation’.

Embryos with unbalanced translocations usually do not implant, miscarry or rarely, result in the birth of a child with severe abnormalities. PGD can detect unbalanced translocations, as well as errors of all other chromosomes in a developing embryo



Some genetic conditions affect one gender, for example haemophilia and muscular dystrophy.

Sometimes it is not possible to detect the exact genetic error that causes the disease and PGD is used to determine the gender of embryos and any errors of all other chromosomes. Then, only the embryos of the required gender and with the correct number of chromosomes will be transferred.

Gender selection is prohibited in Victoria for family balancing or anything other than medical reasons.


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