Genetic Carrier Screening

Carrier Screening for Genetic Conditions

Most couples will have healthy children not affected by a genetic condition. Some couples, however, unknowingly pass on a faulty gene that can have devastating consequences for the health and development of their children.

Reproductive genetic carrier screening identifies the gene faults associated with health conditions. The aim is to assess the likelihood of having a child with a genetic condition before or during a pregnancy.

The Ultrasound Care team of specialist doctors and genetic counsellors provide a comprehensive range of genetic carrier screening services to individuals or couples who are considering pregnancy or for those who are pregnant.

How common are genetic conditions?

A recent Australian study* found that screening of 12,000 women showed that 1 in 20 were carriers of a genetic condition and their combined risk of having a baby with one of these conditions is comparable to the risk of having baby with Down syndrome. Many people are carriers of gene faults, even though no one in their family has a genetic condition. About 80% of children born with a genetic condition have no family history. Given this the current recommendation is for genetic carrier screening to be offered to all people who are pregnant or planning a pregnancy.

The Ultrasound Care team of specialist doctors and genetic counsellors are available to discuss all possible options, make accurate risk assessments and assist with your decision-making process.

What tests are available?

There are tests available before pregnancy or in early pregnancy that screen for the common genetic conditions, such as Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA) and Fragile X syndrome, through to more extensive panels that screen for hundreds of conditions.

What are the most common genetic conditions?

Here is a brief summary of four of the most common genetic conditions:

This is an inherited condition that primarily affects the lungs and digestive system. Individuals with CF develop an abnormal amount of thick mucus, which traps bacteria resulting in recurrent infections and impaired digestion of food. Individuals with CF have a shortened life span with lung failure being the major cause of death, CF is a serious condition and although there is no cure there are interventions that improve life expectancy and quality of life. More information

This is a condition that affects nerves in the spinal cord and causes progressive muscle weakness. There are four types of SMA, with SMA type 1 being the most common and the most severe. Babies with SMA type 1 have weak muscles from birth and usually do not live past two years of age. There is no cure for SMA, however there are treatments and interventions available aimed at managing symptoms and improving quality of life.

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This means that if both parents are healthy carriers, then there is a 1 in 4 chance of having an affected child. If you are a carrier of CF or SMA you have a change in one of your genes associated with these two conditions. CF and SMA carriers do not typically develop symptoms.

This is the most common cause of inherited intellectual disability and autism. People with FXS can have developmental delay, learning difficulties, anxiety, autism, epilepsy as well as some physical characteristics. Features vary from mild to severe but because FXS is located on the X-chromosome, males are more likely to be severely affected than females. There is no cure although some educational, behavioural and medical interventions can improve outcomes for people with FXS. Being an X-linked condition, FXS is generally passed onto male offspring by female carriers. With each pregnancy, FXS carriers have a 1 in 4 chance of having a child with Fragile X syndrome.

Some female carriers may develop fertility problems and go through menopause early, less commonly carriers develop late onset neurological issues that can cause tremors and balance problems.

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How do I arrange for genetic carrier screening?

Ultrasound Care offers multiple genetic carrier screening options. Please call the Ultrasound Care practice that is most convenient to you to arrange for an appointment where we can discuss your needs and advise of your choices.