Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995-2005.

Abstract

The purpose of this study was to review trends in the us of maternal serum Down syndrome screening and invasive prenatal testing before and after the introduction of a state-based first-trimester combined Down syndrome screening program. A retrospective population-based study was performed on first- and second-trimester Down syndrome screening, invasive prenatal testing, and prenatal detection of Down syndrome from 1995 to 2005 in South Australia with data from state-based registers. Chi-square tests were used to evaluate trends. There was a significant decrease in the use of second-trimester Down syndrome maternal serum screening (from 75% in 1995 to 25% in 2005; P < .001) and a corresponding significant increase in first-trimester combined screening (from 0.8% in 2000 to 49% in 2005; P < .001). The proportion of all confinements that involved invasive prenatal testing fell (from 9.3% in 1995 to 7.6% in 2005; P < .001). There was a significant decrease in the number of invasive prenatal tests that were needed to detect 1 Down syndrome fetus (from 86 tests in 1995 to 40 tests in 2005; P < .001), with no significant change in the proportion of Down syndrome cases that were detected prenatally. The introduction and increased use of first-trimester combined Down syndrome screening has been associated with more efficient use of invasive prenatal testing in South Australia and has maintained a high level of overall prenatal detection.