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Pre-conception Genetic Testing

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.

Neither yourself nor your partner may have any genetic issues that you know of. However, one or both of you may be carriers of certain conditions. This means you don’t have the condition, or only have mild symptoms of it. But if both prospective parents carry the gene for the same condition, their children may be at high risk of inheriting the genetic issue. This is because a person must inherit two copies of the gene to produce the disease.

Testing for Specific Ethnic

For example, Ashkenazi Jews have a higher risk of carrying the gene for Tay Sachs disease. People who carry the gene for Tay Sachs disease do not display symptoms and are healthy. But if both parents are carriers of the gene for Tay Sachs disease, their baby may inherit the 2 genes for Tay Sachs disease, and the baby will then have the condition. 

This is significant, as babies with Tay Sachs disease lack an enzyme that breaks down fatty substances. These substances then build up to toxic levels in a child’s brain. This leads to loss of muscle control, blindness and death.

Screening for Other Conditions

Pre-conception genetic testing can also screen for other conditions that prospective parents may carry.

These include Cystic Fibrosis, spinal muscular atrophy and Fragile X syndrome.

If only one parent tests positive for these genes, your baby is not at risk of inheriting these conditions. However, if you both test positive, your baby has a one in four chance of developing the disorder.

To undergo pre-conception genetic testing, a saliva or blood sample may be taken from one or both prospective parents.  Alternatively, some genetic testing involves swabbing the inside of the prospective parent’s cheek. 

Genetic tests that seek to determine if a person carries a gene are known as carrier screening 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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