计划组建家庭？夫妻应该了解哪些关于基因筛查的知识？
06 April 2026
Starting a family is one of life’s most exciting and meaningful decisions, and it often comes with many questions about health, pregnancy, and the future. One topic many couples may not be aware of is genetic screening (reproductive carrier screening) .
Even when both partners are healthy and have no known family history of genetic conditions, genetic screening can provide valuable insights and peace of mind.
What Is Reproductive Carrier Screening for Couples?
Genetic screening for couples, also known as reproductive carrier screening, checks whether one or both partners carry gene variants that could be passed on to a child.
Most couples are completely healthy and may not know they carry these genes. Problems arise only when both partners carry the same genetic condition, which increases the risk of having an affected child.
“We Are Healthy. Do We Still Need This?”
This is one of the most common questions couples ask, and understandably so.
The answer is yes. Many genetic conditions present no symptoms in adults and may not appear in family history. Carrier screening helps identify hidden risks, giving you the information you need to make informed choices before or during pregnancy.
What Conditions Can Be Screened?
Depending on the test, carrier screening can test for a range of inherited conditions, including:
- Thalassaemia
- Spinal muscular atrophy (SMA)
- Cystic fibrosis
- Other inherited metabolic or genetic conditions
Your healthcare team will help recommend the most appropriate screening based on your background and needs.
When Is the Best Time to Do Reproductive Carrier Screening?
Ideally, genetic screening should be done before pregnancy. That said, testing during early pregnancy is also an option.
Screening early gives you and your partner more time to:
- Understand your results
- Discuss options calmly
- Make confident decisions together
What Happens If We’re Both Carriers?
If both you and your partners are found to be carriers, it does not mean you cannot have a healthy child. What it does mean is that you have the opportunity to:
- Understand the actual level of risk
- Explore reproductive options available to you
- Plan your pregnancy care with the right specialist support
Genetic counsellors play a key role during this time, helping you understand your results and providing emotional and medical support throughout the process.
The Role of Genetic Counselling
Genetic screening involves more than just a blood test. Genetic counselling is an equally important part of the process, ensuring you understand what your results mean and what to do next.
A genetic counsellor will:
- Explain what the screening covers
- Help you decide if testing is right for you
- Interpret results clearly
- Discuss next steps and available options
This ensures couples are supported and not left feeling overwhelmed.
Your Family Planning Journey Starts with Knowledge
Genetic screening is about empowering couples with knowledge to plan ahead, reduce uncertainty, and make informed decisions for your future family.
Whether you are just starting to think about pregnancy or are already expecting, genetic screening can help you move forward with clarity and confidence. Our genetic counsellors are here to support you with clear guidance, compassionate care, and recommendations tailored to your needs.
For more information or to arrange an appointment, please reach out to our Genomic Medicine Centre careline by clicking the button below. Our team will be happy to assist you.
