What is genetic counselling during pregnancy?

Genetic counselling during pregnancy involves talking about an inherited condition with someone who is qualified and has specialist training in genetics and counselling.

Genetic counsellors will review your medical and family history, and then provide information about the available genetic tests and support services. They will also help you to understand the condition more, including how it’s inherited, and how you can plan for and adjust to it as a family.

Conditions you would talk to a genetic counsellor about

  • Down Syndrome
  • Cystic Fibrosis
  • Muscular Dystrophy
  • Neural tube effects
  • Fragile X Syndrome
  • Huntington’s Disease
  • Haemophilia
  • Haemochromatosis


How to find out if you have one of these conditions

You may already be aware that one of these conditions runs in the family. However, non-invasive prenatal screening and testing is often recommended, which reveal the risk of your baby having a certain inherited condition. The results from these tests will help health providers determine whether further tests are needed.

Read our expert article Prenatal screening and testing – what to expect for a detailed outline of each test, when they’re done, and how much they can cost.

Other reasons you might have genetic counselling

  • Some forms of cancer, epilepsy, and diabetes are also hereditary.
  • If you’ve been exposed to chemicals or environmental agents during pregnancy.
  • If your prenatal tests reveal a fetal abnormality or a risk of one.

Where to find a genetic counsellor

If you would like to speak to a genetic counsellor, consult your obstetrician or midwife. Seek support from organisations such as PANDA.

Contact Australasian Society of Genetic Counsellors to find your nearest one. They usually require a referral or phone call from a health professional, but self-referral is acceptable at some units.

What to expect during a session

Before the appointment, try to find out as much information as possible about the medical history of both sides of the family, including major health conditions, age of onset, information on miscarriages, and if relevant, the cause and age of death of family members.

Write down any questions you may have before the session. During the appointment, which lasts from 1 to 2 hours, your genetic counsellor will discuss the tests available, how to manage and treat specific conditions, and you will learn what support and resources exist. You can then make informed decisions taking into account your values and your family.

It can be an emotional and anxious time, but you won’t be expected to remember everything you learn during your session. Your doctor will receive a summary letter, and you’ll leave with brochures, fact sheets, and a list of books and online resources.

After genetic counselling, you may have to make decisions…

Genetic counsellors won’t tell you what to decide, but will help you reach the decisions that are most appropriate for you and your family, such as:

  • Whether or not to have genetic testing done, and what’s involved
  • Who you will share the test results with, and how it could affect them
  • Available medical treatments
  • How you will respond and adapt to the test results, including financially and personally
  • How much support you’re going to need


Follow-up session and ongoing support is provided in further consultations.






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