Learn more about your genes with genetic carrier screening
genetic counselling Australia wide
Genetic Carrier Screening
Genetic carrier screening is a genetic test that determines whether you are a carrier for a serious genetic condition. There are three main types of genetic conditions: single gene conditions, chromosome changes and multifactorial disorders. Genetic carrier screening includes rare autosomal recessive and X-linked recessive single gene conditions. In most cases, there is no family history of the condition. We provide expert genetic counselling to assist prospective parents in making an informed decision about the role of genetic carrier screening in planning a pregnancy.
Autosomal Recessive Conditions
In autosomal recessive genetic conditions, the affected individual has no working copies of a particular gene. This is because they have inherited a single faulty copy from each parent. The parent is an asymptomatic or silent carrier. Preconception carrier screening is available, should you wish to learn your carrier status. Children born to parents who are carriers for the same genetic condition have a 25% chance of being affected by the condition. Examples of autosomal recessive conditions for which genetic testing is available are Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF).
Mackenzie’s Mission was born out of one family’s heartbreaking loss of their beautiful baby daughter, Mackenzie, to a severe autosomal recessive genetic condition, Spinal Muscular Atrophy (SMA) type 1. Mackenzie’s parents, Rachael and Jonny Casella, discovered they were carriers of SMA when Mackenzie was diagnosed. They are now passionate advocates for preconception carrier screening. Read their story here.
X-linked recessive Conditions
A boy with an X-linked recessive genetic condition has a faulty gene carried on the X-chromosome, which can be inherited from their mother, who is typically a silent carrier. Preconception carrier screening includes X-linked recessive conditions for women. Examples of X-linked recessive conditions for which genetic testing is available include Duchenne Muscular Dystrophy (DMD) and Fragile X syndrome (FRAX).
Learning about your genetic carrier status through preconception carrier screening provides you with the opportunity to understand what your chance, as an individual or couple, would be of having a child with a serious genetic condition. This information would provide the opportunity for you to utilise reproductive planning options to reduce the chance of passing the faulty gene on to a future child.
Preconception carrier screening is readily available to determine your carrier status for many genetic conditions including Fragile X syndrome, Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy and Cystic Fibrosis (CF). We provide genetic counselling to help you make an informed decision as to which genetic testing is appropriate for you. We explain the tests and subsequent results in an easy to understand manner, helping you to integrate this information with your own personal values to tailor a healthcare plan for you.