About reproductive carrier screening
Reproductive carrier screening is a genetic test that is done before or during the early stages of pregnancy. This testing can detect variants in the genetic makeup of one or both partners that could be passed down to their children and cause a serious health condition.
Even if there is no family history of a genetic condition, a baby may still develop a genetic condition if one or both of their parents are genetic carriers. Most people are not aware they are carriers of a genetic condition that could be passed down to their baby.
Results of reproductive carrier screening
The results of reproductive carrier screening can show if a couple has an increased likelihood of having a child with a specific genetic condition. For most couples, the results reassure them that their baby is unlikely to develop the conditions included in the screening test.
If the test indicates one or both partners are a carrier of a genetic condition, this information can help the couple:
- Prepare for the possibility they may have a child with a genetic condition
- Decide whether to have testing once they are pregnant, to see if their baby is affected by the condition
- Consider other options for having a baby, such in vitro fertilisation (IVF) and preimplantation genetic diagnosis, egg or sperm donation, or adoption.
This fact sheet gives more information about reproductive carrier screening.
Types of reproductive carrier screening
There are three main types of reproductive carrier screening:
- A test called the 3 gene panel that detects changes in the genes (the basic units of inheritance) that cause cystic fibrosis, Fragile X syndrome, and spinal muscular atrophy.
- Around 1 in 20 people in Australia are carriers of cystic fibrosis, Fragile X syndrome or spinal muscular atrophy.
- Around 1 in 240 couples have an increased chance of having a child with one of these conditions.
- In Australia, the cost of the 3-gene reproductive carrier screening test for cystic fibrosis, Fragile X syndrome and spinal muscular atrophy is now covered by Medicare*.
- A wider test that can detect changes in around 400 genes.
- A more comprehensive test that can detect changes in more than 1,000 genes.
*Note: Medicare covers the cost of the test only
Reproductive carrier screening at First Light Genetics
At First Light Genetics we will support you across your entire journey, by:
- Helping you decide if reproductive carrier screening is right for you
- Helping you understand and choose from the available tests
- Organising testing and explaining the results
- Providing information and counselling both before and after testing