Impact of prenatal diagnosis on revised livebirth prevalence estimates of Down syndrome in the Lothian region of Scotland, 1978–1992

Ramsay et al. [(1991) Biomed Pharmacother 45:267-272] reported on the livebirth prevalence of Down syndrome in the Lothian region of Scotland during 1978-1989. Their results suggested a temporal association between the events of Chernobyl in April 1986 and a significant-excess of cases in 1987. In the current study the data were extended for 3 years and reanalyzed, a major objective being to correct for the differential loss of fetuses with Down syndrome which occurs between prenatal diagnosis and birth. Other objectives were to estimate the prevalence reduction due to prenatal diagnosis, quinquennial maternal age-specific risk rates, and the level of ascertainment of cases. The reanalysis found a 12-year prevalence rate of 1.29 vs. the previous rate of 1.34, and a shift of the annual prevalence peak to 1988, with a reduced prevalence in 1987 compared to that found in the earlier study. The new results are less consistent in showing an association of Down syndrome clustering with the Chernobyl accident. For the 15-year study period, a 23% overall reduction in prevalence occurred due to prenatal diagnosis and elective abortion of affected fetuses, with a 50% reduction to women > or = 35 years of age. For 1988-1992, these reductions were 33% and 60%, which are among the highest reported in the literature for these time periods. The estimated quinquennial maternal risk rates were very similar to others already reported, and the data are consistent with a high level of case ascertainment. Since these women are approaching the upper limits of fetal detection through advanced maternal age alone, continued reduction in prevalence rates for Down syndrome through prenatal diagnosis and elective abortion will come mostly from increased use of other (chemical) screening techniques now available.