Australian Study Recommends Genetic Carrier Screening

For All Couples Planning Pregnancy

Healthy couples always have healthy babies…right?
Not always – So get screened, just in case!

World class researchers, Archibald et al, from VCGS and MCRI, have just released an important article in Genetics In Medicine which confirms the vital and practical role of routinely offering genetic carrier screening to people planning a family. Their study describes 12,000 patients screened for three common genetic conditions (cystic fibrosis, spinal muscular atrophy and fragile X syndrome). Click here for the full article.

The main outcomes of Archibald et al (2017) are highlighted below:

  • 1 in 20 were found to be carriers of CF, SMA or FRAX (8 people carried at least two of these conditions)
  • 88% had no family history of the condition, so they had no idea they were carriers
  • 50 couples (1 in 240) were identified to have a high risk of having a child with one of these conditions
  • 32 of the 50 couples were pregnant at the time of testing
  • 7 babies were confirmed to be affected with these serious conditions
  • The diagnoses of these 7 babies could have been prevented with pre-conception carrier screening

Waiting till you are pregnant is not the ideal time to find out about these risks. Given the combined risk of these three conditions is similar to the population risk of having a baby with Down Syndrome we agree that ALL couples should be offered this testing before pregnancy and ALL doctors should discuss this testing with prospective parents.

Many doctors do not actively recommend this screening to their patients! We believe ALL patients have a right to access these types of tests – and make their own choices. Ask your doctor about the option of pre-conception genetic carrier screening at the time you stop the pill, and commence folic acid supplements. Or better yet, take your future family’s health into your own hands and make an appointment to see a genetic counsellor to discuss these options in detail.

Contact us now for an appointment or to find out more about how we can help you achieve your dreams of a healthy future family.

What is Preconception Carrier Screening?

What is Genetic Testing?