Epidemiologic Aspects of Down Syndrome

摘要

The study focused primarily on epidemiological questions regarding Down Syndrome (DS) births in Ohio, but included data for the United States as well. Specific objectives were to (1) extend a previous Ohio DS data set from 1970-79 to 1980-85 so that a 16 year data base for DS epidemiology was available; (2) determine the temporal change in number and incidence of DS births in Ohio over this time period, and compare them to expected number and incidence based on changes in maternal population age structure alone; (3) using single year maternal age DS risk rates and U.S. Census Bureau projection data, project the number and incidence of DS births for both Ohio and the United States for the period 1980-2000; (4) estimate the level of amniocentesis utilization in Ohio by pregnant women 35 years of age and older, and along with other amniocentesis utilization models, calculate the impact amniocentesis has had on Ohio DS births, and will have to the year 2000, both on DS births in Ohio and the United States as a whole; (5) estimate the level of both false negative and false positive reporting of DS on the Ohio birth certificates; (6) analyze the Ohio DS data set for a paternal age effect independent of the maternal age effect; (7) estimate the mutation rate using de novo DS translocations.