Embryo Genetic Testing

What is Embryo Genetic Testing?

Embryo Genetic Testing includes Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS).  Both the diagnosis and screening tests are options for couples at increased risk of passing a chromosome abnormality or specific genetic disorder on to their children. Couples choose PGD and PGS for many reasons, including repeat implantation failure, repeat miscarriage, an objection to termination of pregnancy, or loss of a child from the genetic disease.

Why choose the Monash IVF Group for PGD and PGS?

The Monash IVF Group has offered PGD and PGS as a clinical service since 1996 and is one of the few clinics in Australia that specialises in this area of reproductive medicine.  In 1996 we were proud to report the birth of Australia’s first PGD babies and since then we have performed over 4,000 PGD cycles with proven high success rates.  Our specialised genetics team contains highly qualified experts in PGD, ensuring the best quality of care for patients.

The genetics team is responsible for providing a specialised PGD and PGS service not only to our own patients, but also to patients undergoing IVF cycles at number of different IVF clinics throughout Australia and New Zealand.

Next Generation Fertility offer a comprehensive suite of Preimplantation Genetic Screening (PGS) which includes Embryo Screen and Preimplantation Genetic Diagnosis (PGD) using Karyomapping a new single gene test now available in-house.

Embryo Screen

Embryo Screen is the most advanced embryo genetic screening test available in Australia. It offers a new 23 chromosome screening procedure that uses leading technology to identify correct chromosome copy number and therefore suitable embryos for transfer.

Although embryos may look normal under the microscope many of them don’t have the correct number of chromosomes even though they have the ability to grow to a 5 day old embryo (blastocyst).  If transferred these embryos won’t have the ability to implant into the uterus or if they do may result in a miscarriage.

By screening the embryos before we transfer them we can select the embryos with the correct number of chromosomes and therefore improve the likelihood of achieving a successful pregnancy. By only transferring embryos that have the potential to result in a successful pregnancy the number of IVF cycles to achieve a successful ongoing pregnancy is significantly reduced.


Karyomapping is a new single gene PGD test available in-house.  Karyomapping is suitable for patients with a family history of a single gene disorder who are at risk of producing embryos that are affected by that single gene disorder including Cystic Fibrosis, Fragile X, Beta-thalassaemia, or Spinal Muscular Atrophy.

What are the benefits of Karyomapping?

Karyomapping offers several significant benefits including:

  • A significant reduction in the timeframe required to perform the test.  As the testing is performed on a standardised platform, there is no need to tailor design a specific test for each couple.  As a result, the turnaround time for testing is only 2-4 weeks.
  • Karyomapping has the potential to detect some chromosome abnormalities which may be associated with implantation failure, miscarriage, or abnormalities at birth.  While the testing is not specifically designed to screen for chromosome abnormalities and there is no guarantee that all chromosome abnormalities will be detected, this does represent a significant improvement compared to the previous test.
  • Karyomapping is more cost effective.  This testing is charged at $700 per biopsied embryo, with the fee capped at $2460 per PGD cycle.

To learn more about Embryo Screen and Karyomapping please call us on 1300 300 643 or complete the enquiry form below.