PRECONCEPTION HEALTH

Genetic Screening

Key things to know

  • Genetic carrier screening can be done before pregnancy to check for a range of inherited conditions, including: Cystic Fibrosis, Fragile X Syndrome and Spinal Muscular Atrophy
  • Screening is usually done through a blood or saliva test arranged by your GP.
  • Your sample is sent to a laboratory for testing, and the results are shared with you and your GP.
  • Medicare rebates are available for everyone, regardless of your personal or family medical history.
Page Contents

CONTENTS

Genetic screening before pregnancy

Before the baby bump describes the time before you are pregnant, when you might be thinking about having a baby or starting to try for one. It is called preconception.

Hereditary conditions are often rare, but many people are carriers of genetic conditions without knowing it. Genetic screening can be done by anyone planning a pregnancy, regardless of family history. If you or your family have a known genetic condition, you may be referred to a specialist genetics service for further discussion and possible testing.

Screening is done through a blood or saliva test arranged by your GP and sent to a laboratory. Medicare rebates are available for everyone, regardless of personal or family history.

Myth busting

Work as a team

Visiting a GP is important for both women and men before pregnancy, especially if you or your partner have a personal or family history of an inherited condition. Starting this process early gives you time to understand your options and make informed choices well before you are pregnant.

Facts

Genetic screening is a safe and accessible way to check whether you or your partner have an increased chance of having a baby affected by a genetic or chromosomal condition. If the screening shows a higher chance, you can be offered genetic counselling and follow-up testing to support informed decisions.

There are many genetic and chromosomal conditions that can be screened before pregnancy. The most common include:

  • Spinal Muscular Atrophy (SMA)
  • Fragile X Syndrome (FXS)
  • Cystic Fibrosis (CF)

Checklist for women

Download : Checklist for women

Checklist for men

Download : Checklist for men

Wait! There’s more

Get there first 

Many parents wait until they are pregnant to visit the GP, but visiting beforehand helps you optimise health – improving egg and sperm quality, creating a healthier pregnancy environment, and giving your baby the best start.  Head to your GP before the baby bump, so you can be the healthiest you when the baby is ready to start growing

Healthier pregnancy 

Taking steps towards health early can lead to a healthier pregnancy. Your GP can support you in this journey and consider the whole picture that is you.

More time to enjoy your pregnancy 

Seeing your GP before the baby bump ensures your body is ready once you’re expecting, giving you more time to enjoy your pregnancy.

Support resources

Support services

Genetic Health Queensland – Prenatal Screening and Testing

Genetics Health Queensland – information about the service.

References

  1. Katz, D. J., Shoshany, O., & Teloken, P. (2017). Male Infertility – The other side of the equation. Australian Family Physician. 46(9). https://www.racgp.org.au/afp/2017/september/male-infertility
  2. Dorney, E., & Black, K. (2024). Preconception Care. Australian Journal of General Practice. 53(11). https://doi.org/10.31128/AJGP-08-23-6927
  3. RANZCOG. (2020). Pre-pregnancy counselling. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists. https://ranzcog.edu.au/wp-content/uploads/Pre-Pregnancy-Counselling.pdf

Understand your health before the baby bump

Take a free online preconception health check today or speak to your doctor or pharmacist.

Before the Baby Bump is an initiative of the Queensland Government, delivered by Health and Wellbeing Queensland, and funded through Queensland Health’s Supporting Healthier Pregnancies Initiative.

Health and Wellbeing Queensland acknowledges the Traditional Owners and custodians of the lands from across Queensland. We pay our respects to the Elders past and present for they are holders of the memories, traditions, the culture and aspirations of Aboriginal and Torres Strait Islander peoples across Queensland.

© Health and Wellbeing Queensland 2026