Carrier screening is relevant to anyone pregnant, or planning a pregnancy. Our data show that:
- 1 in 20 individuals is a carrier of cystic fibrosis, fragile X syndrome or spinal muscular atrophy
- 90% of carriers have no relevant family history.
Collectively, these conditions are common. In our experience:
- 1 in 240 pregnant couples were found to have an increased chance of a child with CF, FXS or SMA
- 1 in 1000 had an affected pregnancy.
Professional guidelines from The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) state
‘…information on carrier screening for other genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy.’
1. Ropers HH. On the future of genetic risk assessment. Journal of community genetics. 2012 Jul 1;3(3):229-36.
2. Archibald AD & Smith MJ, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine. 2018 May;20(5):513.
3. McClaren BJ, & Metcalfe SA, et al. A case for cystic fibrosis carrier testing in the general population. Medical Journal of Australia. 2011 Feb;194(4):208-9.