Congratulations on your pregnancy. This is an exciting time, and for most couples, pregnancy results in the birth of a healthy baby. There are, however, some couples who unknowingly carry genetic changes that can be passed onto their children, potentially leading to serious health issues.
At Ultrasound Care, our team of experienced doctors and genetic counsellors offer comprehensive genetic counselling to help you understand your reproductive risks and make informed decisions early in pregnancy, or when planning a family.
Why is carrier screening important?
Carrier screening identifies whether you and your partner carry genetic changes (also known as variants or mutations) that are associated with certain inherited genetic conditions. Many carriers are completely healthy and have no family history of the condition, meaning they are often unaware.
Importantly, if both parents are carriers of the same genetic condition, there is a 1 in 4 (25%) chance for each pregnancy that the baby will be affected.
What does the research show?
A recent Australian study data of 10,000 couples found that around 2% of couples (1-in-50) were at an increased risk of having a child with one of the genetic conditions screened. The combined risk can be comparable to the risk of chromosomal conditions, such as Down syndrome. As a result, carrier screening is increasingly being recommended as part of routine preconception and early pregnancy care.
What conditions can be screened?
Carrier screening can range from targeted testing for common conditions to expanded panels that assess hundreds of genes. Commonly screened conditions include:
Cystic Fibrosis (CF)
Cystic fibrosis is an inherited condition that affects the lungs and digestive system. It causes thick, sticky mucus to build up, leading to breathing difficulties, recurrent chest infections, and problems with digestion and nutrient absorption. It is a lifelong condition with no cure, and management involves daily treatments such as physiotherapy and enzyme replacement therapy.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a genetic condition that affects the motor nerve cells in the spinal cord. This leads to progressive muscle weakness and loss of movement. In severe cases, it can affect breathing and feeding. Early diagnosis is important, as newer treatments may improve outcomes, but there is currently no complete cure.
Fragile X Syndrome (FXS)
Fragile X syndrome is a genetic condition that can cause developmental delay, learning difficulties, intellectual disability, and behavioural challenges. It is one of the most common inherited causes of intellectual disability and can also affect emotional and social development.
Who should consider carrier screening?
Carrier screening is available to all individuals and couples who are planning a family or are currently pregnant, regardless of age, ethnicity, or family history. In fact, most children born with a genetic condition have no known family history, as many carriers are unaware they carry a gene variant.
How do I arrange testing?
The team at Ultrasound Care can guide you through the process of genetic carrier screening. Our doctors and genetic counsellors will explain the available testing options, help you choose the most appropriate panel, and support you with results and next steps.
If you are planning a pregnancy or are currently pregnant, speak with our team about whether genetic carrier screening is right for you.