Understanding Genetic Testing for IVF embryos - | IVF Treatment | Monash IVF Australia

Understanding Genetic Testing for IVF embryos

Dr Elissa Willats

Molecular Geneticist
Monash IVF PGD Coordinator


What is PGS / PGD?
Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) are treatment options for couples at increased risk of passing a chromosome abnormality or specific genetic disorder on to their children. These treatments involve screening IVF generated embryos for genetic conditions prior to embryo transfer. This enables the genetic status of an embryo to be determined before a pregnancy is established. Couples choose PGS/PGD for many reasons, including advanced maternal age (>36 years), repeat implantation failure, repeat miscarriage, or an increased risk of having a child with a specific genetic disease.

All couples undergoing PGS/PGD must undertake an IVF cycle to stimulate the woman’s ovaries to produce a number of eggs. These eggs are collected and fertilised using the male partner’s sperm. The resulting embryos are cultured in the laboratory and their growth is monitored on a daily basis. Embryo biopsy (sampling cell/s from the embryo for genetic testing) is typically performed 5 or 6 days after fertilization. By this time, the embryo should have developed to the blastocyst stage, and should be comprised of an inner cell mass (which will go on to form the fetus) and trophectoderm cells (which will go on to form the placenta). Embryos need to have a clear inner cell mass and a suitable number of healthy trophectoderm cells to be considered suitable for biopsy. Approximately 5 trophectoderm cells are removed for genetic analysis (Refer to Figure 1).

embryo biopsy

Because of the time taken to perform the genetic testing, the embryos must be vitrified (frozen) following biopsy. Final results are usually available 3 weeks after biopsy. If available, one or two ‘normal’ embryos can be thawed for use in a frozen embryo transfer cycle. Surplus ‘normal’ embryos will remain in storage. These embryos may be used in a subsequent cycle. Abnormal or affected embryos will be removed from storage and allowed to succumb.

Please refer to The Monash IVF Group Fact Sheet Preimplantation Genetic Diagnosis/Screening (PGD/PGS) for more information relating to the embryo biopsy and the PGS/PGD process.

Why choose the Monash IVF Group for PGS/PGD?
The Monash IVF Group has offered PGS/PGD 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 baby and since then we have performed over 4,000 PGS/PGD cycles with proven high success rates. Our specialised genetics team contains highly qualified experts in PGS/PGD, ensuring the best quality of care for patients.

The Monash IVF Group genetics team is responsible for providing a specialised PGS/PGD service not only to our own patients, but also to patients undergoing IVF cycles at a number of IVF clinics throughout Australia and New Zealand. This enables patients to access the highest levels of expertise without having to leave their home state.

What PGS/PGD tests does the Monash IVF Group offer?


Dr Elissa Willats is a qualified molecular geneticist and the Monash IVF PGD Coordinator. For more information about Monash IVF PGS and PGD services, please call 1800 628 533 or complete the enquiry form below.

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