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Genetic Testing

There are a wide range of genetic tests that can be performed before pregnancy. These tests can offer peace of mind to prospective parents. That is because such tests can determine whether your baby is at increased risk of a genetic issue.

There are also diagnostic tests that can be performed on embryos during IVF treatment. This can allow prospective parents to select an embryo that is not affected by a genetic issue.

Genetic tests can also be performed during pregnancy. Such tests can determine whether your baby may have a genetic mutation or chromosomal issue. Knowing such information can help guide further decisions about your family plans.

What are the main types of genetic tests?

Genetic testing is not about having one single test. Instead, there are a range of different diagnostic tests available. What test, or tests, you may have depends on where you are in your journey towards having children.

If you are not yet pregnant, you may choose to undergo pre-conception genetic testing. 

Alternatively, genetic testing can be performed on an embryo during IVF before being implanted. That is known as pre-implantation genetic testing.

Then there are genetic tests that can be performed once a pregnancy has already been established. Such tests are called antenatal or prenatal genetic tests.

The aim of pre-conception genetic testing is to analyse a person’s genes before they become pregnant. This allows people to find out if they are at risk of having a baby with a genetic issue. READ MORE

Pre-implantation genetic testing (PGT) is performed on an embryo before it is implanted during IVF treatment. 

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, to prevent inheritance of genetic disease.

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

Genetic testing is also available for those who are already pregnant. Such medical tests are usually done in the early stages of pregnancy, to either allow preparation for a child with the condition, or to allow for termination of pregnancy. These are known as antenatal genetic tests, or prenatal tests. READ MORE

Where can I get a genetic test done?

Your CREI accredited health practitioner can advise on the best place for you to undergo genetic testing. Talking to your doctor can help determine which types of genetic tests may be appropriate for you.

What are the risks of genetic testing?

Anyone considering pregnancy, should consider undergoing pre-conception genetic testing. That is because genetic testing can offer peace of mind to prospective parents. People with a family history of breast or ovarian cancer may undergo testing to reduce their child’s cancer risk. If you are concerned you carry a genetic mutation, a negative result from genetic testing can offer reassurance.

However, undergoing genetic testing can also add additional stress. Furthermore, results of genetic testing can also lead to a host of emotions. People may feel angry, upset or guilty about their results. It is therefore helpful to consult a genetic counsellor or geneticist prior to initiating genetic testing. 

Genetic counsellors are specially trained to talk through the potential benefits and risks of genetic testing. They can therefore help you make an informed decision about whether to embark on the process. In pregnant women, prenatal genetic tests involving amniocentesis and CVS  carry a small risk of miscarriage. Your doctor will talk to you about this risk.

Does Medicare cover genetic testing?

If both partners carry a gene for a specific condition, Medicare now partially funds IVF with pre-implantation genetic testing of embryos.  

If a person carries a re-arrangement of chromosomes (e.g. translocation) that increases their chances of having embryos that are not chromosomally normal, Medicare now partially funds IVF with pre-implantation genetic screening of embryos.

Talking to your doctor can help you learn more about the potential costs and benefits of these tests.


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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