Genetic counselling involves discussing with a trained professional the likelihood of a baby inheriting or developing – and the practicalities of living with – a genetic or congenital condition.

Prospective or soon-to-be parents may be aware of a family history of congenital conditions, or themselves be living with these, and genetic counselling helps them to understand and prepare for the possibility of raising a child with that condition.

Genetic conditions, congenital conditions

All genetic conditions are congenital conditions, but not all congenital conditions are genetic conditions.

  • Genetic conditions are inherited at the point of conception. They result from the passing on of certain genes by one or both parents, or by faults in the sex cells caused by toxic chemicals, radiation exposure or age. Genetic conditions cannot be avoided through behavioural changes during conception or pregnancy.
  • Congenital conditions are those conditions that are developed (or, in the case of genetic conditions, inherited) prior to childbirth. All genetic conditions are, by definition, congenital conditions.

Congenital conditions that are not genetically inherited can be caused by disease in the pregnant mother, by drug and alcohol use and by chemical exposure during pregnancy. For some conditions, it is still unknown whether they are caused by genes or developed through processes in the womb – it may be possible that both are a factor.

While some congenital conditions may not have a significant impact on a baby’s quality of life, many do, and these often require lifestyle adjustments for the family. The purpose of genetic counselling is to inform parents of these realities.

The difference between genetic testing and genetic counselling

Genetic testing can be undertaken on either parent to determine the presence of certain condition-causing genes. The process will involve discussing your family’s medical history and the chances of any babies you conceive inheriting or developing certain conditions. Even if there are no conclusive results to suggest that your baby is likely to inherit these conditions, genetic testing may be undertaken at certain points during the pregnancy to determine a condition’s presence.

A trained genetic counsellor can discuss with you the realities of care for your baby where there is a likelihood that they will inherit a genetic condition or develop a congenital condition. The counselling enables you to understand the condition and the necessary support they need to grow and develop.

What will I discuss during genetic counselling?

The aim of genetic counselling is to help parents understand and adapt to the implications of raising a child with a life-affecting congenital condition. Some of the things you might discuss include:

  • the results of genetic testing, or whether to undergo genetic testing
  • your family’s medical history
  • any exposure you or your partner have had to toxic chemicals or radiation
  • the likelihood of certain genetic conditions being passed down
  • the likelihood of congenital conditions developing
  • the day-to-day realities of raising a child with a congenital condition
  • the types of treatment and support your child may need at various stages throughout their life.

A genetic counsellor will not tell you what to do. Their goal is to ensure that you are informed and prepared and to provide you with information about appropriate support services.

Seeing a genetic counsellor

Genetic counsellors practice at a variety of clinics, hospitals and healthcare providers throughout Australia’s states and territories. You can also speak to a GP for more information and a referral, or you can contact the Australian government’s Pregnancy, Birth and Baby hotline on 1800 882 436.