Prenatal Screening Strategies for Down Syndrome: Many Options but Few Answers

Abstract

Down syndrome is the single most common cause of severe mental handicap in Australia. Prenatal screening for Down syndrome is therefore an important component of modern antenatal care. However, while effective second trimester serum screening for Down syndrome has been available in Australia for almost a decade it appears that the majority of Australian women, particularly those outside South Australia and New South Wales, are still not offered it. Newer methods of screening have been recently described and are already being offered in routine clinical practice. These methods, including nuchal translucency, will afford results earlier in pregnancy than second trimester serum screening and so are attractive to women. However, available evidence suggests that nuchal translucency may not perform as well as second trimester serum screening and further evaluation of the newer screening strategies in an Australian population is urgently required. Alteration of practice prior to such an evaluation is simply not warranted at this time.