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Pre-implantation Genetic Testing

Pre-implantation genetic testing is performed on an embryo before it is implanted during IVF treatment. This test is also referred to as pre-implantation genetic diagnosis (PGD).

Pre-implantation genetic testing involves testing some cells that are taken from the developing embryo during IVF treatment. Those cells can then be examined for genetic mutations or genetic disorders.

Such testing can determine whether an embryo contains any genetic or chromosomal issues. Prospective parents may then choose to implant an embryo that is chromosomally healthy, or unaffected by a genetic condition. 

Genetic conditions that can be detected by pre-implantation genetic testing include:

  • Huntington’s disease
  • Cystic Fibrosis
  • Fragile-X

Testing for Child’s Cancer Risk

Genetic testing can also be performed to look for genes that may increase your child’s cancer risk. The genes BRCA1 and BRCA2 lead to increased risk for developing hereditary breast and ovarian cancer.

If you have a family history of breast and/or ovarian cancer, you may choose to undergo genetic testing. 

Such testing can allow you to select an embryo that does not contain those gene variants. Selecting an embryo that does not contain those gene variants can therefore reduce your child’s cancer risk.

Analyse the Number of Chromosomes in an Embryo

Pre-implantation genetic testing can also analyse the number of chromosomes in an embryo.

Each cell in an embryo should have 46 chromosomes, arranged in 23 pairs. Having an extra or missing chromosome can lead to certain medical conditions. A common chromosomal condition is trisomy 21, also known as Down syndrome. People with Down syndrome have three copies of chromosome 21 instead of two.

A change to the number of chromosomes can also lead to failure to become pregnant, or miscarriage.

Pre-implantation screening of the number of chromosomes within the embryo may help women conceive faster.


Medical and scientific information provided and endorsed by the Australian and New Zealand Society of Reproductive Endocrinology and Infertility (ANZSREI) might not be relevant to a particular person’s circumstances and should always be discussed with that person’s own healthcare provider. Patient Information Sheets may contain copyright or otherwise protected material. Reproduction of Information Sheets by ANZSREI Members for clinical practice is permissible. Any other use of this information (hardcopy and electronic versions) must be agreed to and approved by the ANZSREI.

Disclaimer: All information presented on this page is intended for informational purposes only and not for rendering medical advice. The information contained herein is not intended to provide medical advice, diagnose, treat, cure or prevent any disease.


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