Carrier screening gives individuals and couples information about their chance of having a child with an inherited genetic condition: specifically cystic fibrosis (CF), fragile X syndrome (FXS) or spinal muscular atrophy (SMA). These three genetic conditions have serious health consequences and are some of the most common inherited conditions in the general population.

Kirsty and Aaron McConnell’s daughter Lily had SMA type 1 and passed away in March this year, at around 18 months of age. Kirsty and her husband Aaron had no idea they were carriers of SMA as there was no known family history. For more about Kirsty and Aaron’s story see:

New research published by the Victorian Clinical Genetics Services (VCGS) has shown that the combined affected pregnancy rate of CF, FXS and SMA is comparable to the population risk for Down syndrome – highlighting the need to routinely offer carrier screening.

This latest research evaluated the use of the prepair carrier screening test developed by VCGS and found that 1 in 20 people were identified as a carrier of one or more of these conditions and approximately 1 in 1000 couples had an affected pregnancy. For the majority of carriers, there was no known family history.

Senior author, Professor David Amor said that professional bodies recommend those couples considering or in early pregnancy be informed that testing for these conditions is available. "In fact, offering screening for these conditions is recommended even when there is no family history."

The test offered by VCGS is simple and can be performed on a blood or saliva sample. Typically, the female partner is tested first. It can be performed before pregnancy or in early pregnancy (prior to 12 weeks).

For information about carrier testing, visit our prepair page or read our latest partumpost.

Paper citation: Archibald A, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 2017