Preconception Genetic Screening

Genetic carrier screening refers to screening for the presence of “silent” (recessive) genes in two parents, that, if inherited together, could result in a baby suffering from a severe disease (e.g. cystic fibrosis). Dr Raelia Lew recommends that all couples consider undertaking genetic carrier screening pre-conception.

For most Australians, screening for three common inherited conditions is offered: cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). Many people are carriers of CF, FXS or SMA even though they do not know of anybody in their family who has the condition.


Where a patient’s genetic heritage increases their carrier risk, preconception screening for other specific recessive genetic conditions may be recommended. Examples include Ashkenazi Jewish, Middle Eastern, Mediterranean or South East Asian heritage due to increased prevalence of specific conditions in these groups (e.g. Tay Sachs disease, Thalassaemia).