Learn more about your genes with genetic carrier screening
genetic counselling Australia wide
Genetic Carrier Screening
Most people carry genetic changes that do not affect their own health but could cause a genetic condition if passed on to a child.
Reproductive genetic carrier screening looks for a range of rare inherited conditions, including autosomal recessive and X-linked conditions. Most people who are carriers have no symptoms and no family history of the condition.
Our expert genetic counsellors can help you understand your screening options and make an informed decision about whether carrier screening is right for you when planning a pregnancy.
Autosomal Recessive Conditions
In an autosomal recessive condition, a person has inherited a non-working copy of the same gene from each parent.
The parents are usually healthy and unaware that they carry a genetic change. If both parents are carriers of the same condition, each pregnancy has:
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a 25% chance that the child will have the condition
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a 50% chance that the child will be a healthy carrier
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a 25% chance that the child will neither have the condition nor be a carrier
Preconception carrier screening is available if you would like to understand your carrier status before pregnancy. Conditions that can be included in carrier screening include Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF).
X-linked recessive Conditions
In an X-linked recessive condition, the genetic change is located on the X chromosome. These conditions most commonly affect boys because they have only one X chromosome. The genetic change is usually inherited from their mother, who is often a healthy carrier.
Preconception carrier screening for women can identify a range of X-linked conditions. Examples include Duchenne Muscular Dystrophy (DMD) and Fragile X syndrome (FRAX). Fragile X syndrome can also affect girls.
What could the results mean for you?
Carrier screening can help you understand your chance, as an individual or couple, of having a child with a serious genetic condition. If screening identifies an increased chance, our genetic counsellors will explain what the result means and help you explore your reproductive options.
These options may include prenatal genetic testing during an established pregnancy, or preimplantation genetic testing (PGT) of embryos created through IVF.
We provide clear, personalised information to help you consider these options in the context of your circumstances and personal values.
specialist genetic advice australia wide
How we can help
reproductive genetics
We provide genetic counselling for preconception carrier screening, fertility and pregnancy, helping individuals and couples understand their screening and testing options.
clinical genetics
We work with individuals who have, or may have, a genetic condition. We provide information about diagnosis, management, inheritance and what a condition may mean for relatives.
cancer genetics
We provide specialist genetic counselling for individuals and families concerned about a personal or family history of cancer.
Telehealth
We provide convenient access to expert genetic counselling throughout Australia using Zoom Professional.