Genetic testing

Depending on your cultural background, you, your partner, or the combination of you together, could mean that there genetic testing is a sensible precaution.

Speak to your doctor if you have any concerns and you may be advised to seek further genetic health counseling.

Genetic testing can identify a number of disorders, including:

Screening to identify carriers of haemoglobinopathies. Haemoglobinopathies are a group of inherited disorders affecting haemoglobin and include the thalassaemias. They can be found in the following populations:

  • Mediterranean
  • Middle Eastern
  • African
  • South East Asian and Asian
  • Indian, Pakistani, Sri Lankan, Bangladeshi
  • Indonesian
  • Filipino
  • Pacific Islanders
  • South American
  • New Zealand Maori

It is recommended that this testing be done prior to pregnancy, if possible.

The most severe form of thalassaemia, which cannot be treated, results in a child dying in utero or immediately after birth, and may also put the health of the mother at risk during the pregnancy. Without proper testing, carriers of thalassaemia are healthy and are often unaware they carry a gene change. It is usually when two carriers conceive a child, and the gene change is inherited from both parents that the child will be affected by the condition. For more information visit click here.

Genetic testing is also recommended for anyone with concerns about cystic fibrosis - inherited chronic disease that affects the lungs and digestive system. For a child to be born with CF both parents must be genetic carriers for CF. They do not have CF themselves. For more information visit

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This article was written by Claire Halliday for Kidspot. Sources include Genetic Health Services Victoria (Royal Children's Hospital) and the Royal Women's Hospital, Melbourne.

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