Reproductive carrier screening is used to identify carriers of genetic conditions with an Autosomal recessive inheritance or X-linked inheritance pattern.
Information about carrier screening can be offered to all women or couples during pre-conception and early in the pregnancy (ie first trimester). Identifying carrier couples before pregnancy provides greater reproductive options.
Traditionally, reproductive carrier screening for inherited recessive conditions was offered on the basis of ethnicity. However, this is known to lead to significant under-identification of carrier couples. Given the multicultural nature of society and marriage between people of different ethnic backgrounds, ethnicity is poorly predictive of carrier frequency in Australia.
The decision to undertake carrier screening is a personal choice to be made by the individual or couple. Women or couples should be informed of the benefits, limitations and cost of screening. Ideally, this information is provided pre-pregnancy.1