Genetic testing in Brisbane helps assess the chance of certain genetic or chromosomal conditions before or during pregnancy. Prenatal genetic screening provides information rather than diagnosis and supports informed decision-making with guidance from an experienced obstetric team at Bloom Women’s Health.
Genetic testing can help provide clarity and reassurance when you are planning a pregnancy or already expecting. At Bloom Women’s Health, our Brisbane obstetricians guide you through genetic screening options in a supportive, evidence-informed way, helping you understand what each test can and cannot tell you.
Whether you are considering genetic screening before pregnancy or prenatal genetic screening during pregnancy, our role is to support informed decision-making based on your personal circumstances and stage of care.
Genetic screening before pregnancy, often referred to as reproductive or carrier screening, looks at whether you or your partner carry genes that could increase the chance of having a child with a genetic condition.
Many inherited genetic conditions are rare, and most couples who discover they are carriers have no known family history. This means carrier screening can be relevant to anyone, regardless of background or family history.
At Bloom, your obstetrician will review your medical and family history and discuss whether expanded genetic screening is an appropriate option for you and your partner to consider. Screening before pregnancy can be especially helpful because it gives prospective parents time to understand potential risks and consider options before conception.
Genetic screening is often discussed as part of planning for pregnancy, alongside broader considerations such as medical history, medications, immunisations, and timing.
Prenatal genetic screening refers to tests offered during pregnancy to assess the chance of certain chromosomal or genetic conditions in a developing baby. These may include blood tests, ultrasounds, or a combination of both, depending on the stage of pregnancy.
It is important to understand that prenatal screening is not diagnostic. These tests estimate the likelihood of a condition rather than confirm it. If a screening result shows an increased chance, your obstetrician will explain what that means and discuss what further support and follow-up testing may be appropriate.
Many screening conversations happen alongside routine pregnancy investigations, including routine tests and scans.
Some women choose prenatal genetic screening for reassurance, while others want information early so they can feel prepared and supported.
Prenatal screening aims to:
If screening suggests an increased chance of a condition, this does not automatically mean there is a diagnosis. It means you may be offered additional support and, in some cases, diagnostic testing. Your Bloom obstetrician will take time to talk through the next steps clearly.
If you are early in pregnancy and not sure what to expect from your first appointment, you can also read First obstetric visit.
One of the most commonly screened chromosomal conditions in pregnancy is Down syndrome (Trisomy 21). This occurs when a baby has three copies of chromosome 21 instead of the usual two. The likelihood of Down syndrome increases with maternal age, which is why screening is offered to all pregnant women in Australia.
Depending on the screening test chosen, assessment for other chromosomal conditions may also be available. Your obstetrician will explain what each test includes and help you understand which options may be suitable for you.
You can learn more about prenatal genetic screening and what conditions are tested for here.
Waiting for genetic screening results can feel stressful, and it is normal to feel anxious during this time. Results are reviewed by your obstetrician, who will explain them clearly and answer any questions you may have.
If a result indicates an increased chance of a condition, this does not mean a diagnosis. Next steps may include:
Our focus is on ensuring you feel informed and supported, with time to ask questions and make decisions at your own pace.
If you would like a broader overview of pregnancy care, you can also explore pregnancy, birth and postnatal care and Bloom’s pregnancy FAQs.
Is genetic testing mandatory during pregnancy?
No. Genetic screening is optional. Some women choose screening for reassurance, while others prefer not to. Your Bloom obstetrician will support your decision either way.
How long does it take to get results?
Timeframes vary depending on the type of test and laboratory used. Your obstetrician will explain what to expect and how results will be communicated.
What is the difference between screening and diagnostic testing?
Screening estimates the chance of a condition, while diagnostic testing can confirm whether a condition is present. Diagnostic tests are usually only offered when screening indicates an increased chance.
Does genetic testing involve additional costs?
Some genetic screening tests may involve out-of-pocket costs, which can vary depending on the test and provider. Your obstetrician can talk you through costs and what is involved before any testing is arranged. You can also view Bloom’s approach to costs on the obstetrics fees page.
Who explains the results to me?
Your Bloom obstetrician will review your results with you, explain what they mean, and guide you through next steps if anything requires follow-up.
Genetic testing is one part of comprehensive pregnancy and women’s health care. Bloom Women’s Health supports patients across planning for pregnancy, pregnancy care, and a wide range of women’s health services.
If you would like to discuss genetic testing or prenatal genetic screening in Brisbane, our team is here to help. Request an appointment here or call (07) 3832 7399 today.
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