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
- 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.
Myth busting
Genetic screening can be completed anytime before pregnancy. If you think you may be at higher risk, such as having a personal or family history of a genetic condition, talking to your GP Before the Baby Bump ensures you have time to make informed decisions that reflect your values and preferences.
Genetic screening can be Medicare-funded through your GP as part of preconception care.
If needed, your GP can refer you to Genetics Health Queensland, a publicly funded service that provides further testing and support. Private screening options are also available for those who are not eligible for a public referral.
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)
Fact sheet
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.
Resources
Genetics Health Queensland – information about the service.
- Your Blood, Your Story (QIMR Aboriginal & Torres Strait Islander Health)
- QLD Genomics Patient toolkit (includes some additional language information)
- Melbourne Genomics: Learn Genomics
- Genetic Testing and Life Insurance (NSW Centre for Genetics Education)
- Australian Genomics Genomic Testing Fact Sheet
- NSW Health Genomic Testing Fact Sheet
- NSW Health Genomic Testing Video
- ANU National Centre for Indigenous Genomics info and video
Support resources
Genetic Health Queensland – Prenatal Screening and Testing
What to expect from a GP appointment for family planning
A GP (General Practitioner) is often the first point of contact when planning to start a family. Here’s what you can typically expect during your appointment:
Health and Medical History
- Review of your personal and family medical history (e.g. diabetes, genetic conditions)
- Assessment of menstrual and reproductive history (cycle regularity, previous pregnancies, contraception use)
- Discussion about your partner’s health too – a great reason to see you GP together
Lifestyle and Fertility Risk Assessment
- Questions about smoking, alcohol, recreational drug use, stress, physical activity, and sleep
- Review of diet and weight; including support or referral if needed
- Guidance on healthy weight range and how it may affect fertility
Vaccination and Infection Screening
- Check and update routine vaccinations (e.g. rubella, whooping cough, varicella, flu)
- STI screening and treatment if needed
- Blood tests to check for deficiencies and overall health
Folic Acid and Supplement Advice
- Advice on starting folic acid and iodine before the bump
Medication and Health Condition Review
- Review of any current medications to ensure they are safe during conception and pregnancy
- Management of chronic conditions (e.g. PCOS, endometriosis, diabetes)
Fertility Awareness and Timing Advice
- Education on how to track ovulation and fertile window
- Clarification around how long it may take to conceive and when to seek further help
Referrals if Needed
- Referral to specialists such as:
- Gynaecologist or fertility specialist
- Accredited Practising Dietitian
- Genetic counsellor
References
- 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
- Dorney, E., & Black, K. (2024). Preconception Care. Australian Journal of General Practice. 53(11). https://doi.org/10.31128/AJGP-08-23-6927
- 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
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