Genetic testing during pregnancy helps estimate the chance of certain chromosomal or genetic conditions. Results are not a diagnosis. This guide explains common result types, what follow-up steps may involve, and how prenatal genetic screening supports informed decisions throughout antenatal care.
Waiting for genetic testing results during pregnancy can be one of the most emotionally charged parts of early care. Many people describe the waiting period as stressful or confusing, especially when results use unfamiliar terms such as “low chance” or “increased chance”.
At Bloom Women’s Health, our team of Obstetricians Brisbane supports women through these conversations with clear explanations and careful guidance. This article explains how genetic testing during pregnancy works, what different results usually mean, and what typically happens next.
What Is Prenatal Genetic Screening?
Prenatal genetic screening refers to tests offered during pregnancy to assess the chance of certain chromosomal or genetic conditions in a developing baby. These tests may involve blood tests, ultrasounds, or a combination of both, depending on the stage of pregnancy.
It is important to understand that screening estimates risk, rather than providing a diagnosis. Screening helps identify pregnancies that may benefit from further discussion, monitoring, or diagnostic testing.
If you would like a broader overview of available tests and when they are usually discussed, you can read more about genetic testing and how it fits into pregnancy care.
Understanding Common Result Terms
Genetic screening results are often reported using probability-based language. While this language is medically accurate, it can feel unclear or alarming without explanation.
Low chance or low risk
This means the screening did not identify an increased likelihood of the conditions tested for. It does not guarantee that no condition is present, but it indicates that no further testing is usually required based on that result alone.
Increased chance or high risk
This means the screening has identified a higher likelihood than average for a particular condition. It is not a diagnosis. Many pregnancies with an increased chance result do not ultimately receive a confirmed diagnosis after further assessment.
Your care provider will explain what this result means in your individual situation and what options are available next.
What Happens If Something Is Flagged?
If a screening result shows an increased chance, next steps are guided by your medical history, test results, and personal preferences. These may include:
- A detailed discussion with your obstetrician
- Referral to a genetic counsellor
- Additional imaging or blood tests
- Diagnostic testing, where appropriate
These steps are offered to provide clarity and reassurance, not to rush decisions. Many women worry that a flagged result automatically means something is wrong. In reality, it usually means more information is needed before conclusions can be made.
This process occurs as part of ongoing antenatal care, where results are reviewed alongside other aspects of pregnancy monitoring.
Why Screening Does Not Equal Diagnosis
One of the most common misconceptions about prenatal genetic screening is that a result confirms a condition. Screening tests are designed to be sensitive, meaning they aim to identify as many potential concerns as possible.
Diagnostic tests, which may be offered after screening, are designed to provide clearer answers. These options are discussed carefully, including benefits and limitations, so you can decide what feels right for you.
Emotional Responses to Genetic Testing Results
It is normal to feel anxious, unsettled, or overwhelmed while waiting for results or processing new information. Some women find reassurance in screening, while others find the uncertainty challenging.
Antenatal care provides space to talk through concerns, ask questions, and understand what support is available when working with experienced Obstetricians Brisbane who understand both the medical and emotional aspects of pregnancy care.
How Genetic Testing Fits Into Ongoing Pregnancy Care
Genetic screening is one part of a broader pregnancy care plan. Results are considered alongside ultrasounds, routine blood tests, and your overall health.
As pregnancy progresses, antenatal appointments focus on monitoring development, preparing for birth, and supporting wellbeing. Early screening discussions often inform later planning conversations.
You may also find it helpful to understand how pregnancy care transitions into birth support by reading more about labour and delivery and how care teams support you during this stage.
Common Questions About Genetic Testing Results
Does an increased chance result mean something is wrong?
No. An increased chance result means further discussion or testing may be recommended. It does not confirm a diagnosis.
Will I be pressured into further testing?
No. Your care team will explain options and support your decision, whether you choose further testing or not.
How long does it take to get follow-up results?
Timeframes vary depending on the type of test and what follow-up is required. Your obstetrician will explain what to expect.
Who explains the results to me?
Results are reviewed with you by your obstetrician, who can also arrange genetic counselling if appropriate.
Feeling Informed, Not Rushed
Genetic testing during pregnancy is intended to support informed maternity care, not create pressure. Understanding what results mean and what happens next can help reduce uncertainty and allow you to focus on your pregnancy with greater confidence.
If you have questions about genetic screening or maternity care in Brisbane, the team at Bloom Women’s Health can guide you through your options and support you at every stage.
Disclaimer: The information provided in this blog is for general educational purposes only and should not be taken as medical advice. It is not a substitute for professional diagnosis, treatment, or care. Always seek the guidance of your doctor or other qualified healthcare professional with any questions you may have regarding your health or medical condition.
