Carrier screening looks at your genes
It is a genetic test for you and your reproductive partner to look at what genetic conditions you may pass on to your children.
prepair carrier screening has three options
prepair 3 checks if you are a carrier for 3 inherited genetic conditions. This option is suitable for couples who only want to screen for conditions that are common in the Australian population.
- Cystic fibrosis (CF)
- Fragile X syndrome (FXS)
- Spinal muscular atrophy (SMA)
Cystic fibrosis (CF)
Primarily affects the lungs and digestive system.
Visit Cystic Fibrosis Australia for more information.
Fragile X syndrome (FXS)
Is the most common cause of inherited intellectual disability.
Visit Fragile X Association of Australia for more information.
Spinal muscular atrophy (SMA)
Affects the nerves in the spinal cord and causes muscles to get progressively weaker.
Visit SMA Australia for more information.
prepair 500+ screens for over 500 genes. It looks for a range of conditions, including CF, FXS and SMA. This option might be useful for couples who want information about a wider range of genetic conditions. This option covers conditions common to people of Ashkenazi Jewish ancestry.
Common conditions that couples are found to be carriers for include:
- Phenylketonuria (PKU) - can be treated with diet/medication
- DMD-related conditions - a progressive condition causing muscle weakness
- Cystic fibrosis - symptoms can be managed with medication and physiotherapy
prepair 1000+ is our most comprehensive option that looks for over 1000 genes associated with over 750 inherited genetic conditions, including CF, FXS and SMA. This option is for couples who want as much information as possible from their test. This option covers conditions common to people of Ashkenazi Jewish ancestry.
Did you know:
About 1 in 20 individuals is a carrier for either CF, FXS or SMA
About 1 in 240 couples have an increased chance of having a child with either CF, SMA or FXS
9 out of 10 of carriers have no known family history
Archibald, A. D., Smith, M. J., Burgess, T., Scarff, K. L., Elliott, J., Hunt, C. E., ... Amor, D. J. (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: Outcomes of 12,000 tests. Genetics in Medicine, 20(5), 513-523. doi:10.1038/gim.2017.134
What will carrier screening tell me?
Carrier screening looks at whether you and your reproductive partner are carriers for a range of genetic conditions. This information tells you about your chance of having children with an inherited genetic condition.- Most couples find out they have a low chance of having children with an inherited genetic condition.
- About 2% of couples have an increased chance of having children with an inherited genetic condition (see figure). In this case, our team will help you understand the results and the options available to you (such as testing a pregnancy, or IVF with genetic testing of embryos).
