What the WA carrier screening research project aims to achieve


Autosomal recessive conditions are genetic conditions that occur when each parent carries a genetic fault in the same gene. In this situation, the couple has a 1-in-4 chance of an affected child in each pregnancy. Children with recessive conditions are most often born into families with no prior history since genetic carriers are usually not affected themselves. Whilst severe recessive conditions are rare in themselves, studies have shown that the chance of having a child with a severe recessive condition is higher than or equal to the birth prevalence of children with Downs syndrome, typically quoted as about 1 in 1,000 live births.

In fact, genetic conditions are responsible for a significant proportion of infant morbidity and mortality. Preconception carrier screening (PCS) aims to, according to the European Society of Human Genetics Public and Professional Policy Committee, “facilitate informed reproductive decision making by identifying those couples at risk of having an affected child with an (autosomal or X-linked) recessive disorder”.

WA Carrier Screening Research Project

The WA preconception carrier screening project is a multicentre pilot study in which 250 couples will be tested using the preconception carrier screening panel. This study aims to identify the necessary requirements to deliver an optimized preconception carrier screening program compatible with the WA public health care system.

The study will be conducted at three sites: Genetic Services of Western Australia (GSWA), a private genetic counselling clinic, and participating General Practice Group practices in the Busselton region of WA.

On-going research and evaluation of effectiveness will ensure the study remains responsive in this rapidly changing field.

This website aims to provide sufficient information about preconception carrier screening such that couples can make an informed decision as to whether or not they wish to take the test.

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