Live births, natural losses, and elective terminations with Down syndrome in Massachusetts

Purpose: No studies to date have reported an estimated number of live births, elective terminations, and natural losses (miscarriages and stillbirths) for Down syndrome (DS) in Massachusetts (MA). These numbers would be helpful to estimate how many expectant parents of children with DS need support and the number of live-born children with DS who require services. Methods: Combining robust data sets, including the Annual Reports of the MA Birth Defects Monitoring Program, we estimated the number of live births, elective terminations, and natural losses with Down syndrome from 1900 to 2010. Results: The live birth prevalence for DS in MA for the most recent years for which data are available (2006–2010) was estimated at 12.4 per 10,000 live births, with a total of approximately 94 live births annually. During this period, an estimated 126 DS-related elective pregnancy terminations were performed in MA annually. As of 2008, the estimated rate at which live births with DS was reduced as a consequence of DS-related elective pregnancy terminations was 49%. Conclusion: The reduction of live births with DS is significantly higher in MA than in the rest of the United States as a whole. However, ethnic and racial differences in reduction rates were similar—highest for Asians/Pacific Islanders, followed by non-Hispanic whites, non-Hispanic blacks/Africans, and Hispanics. Genet Med 18 5, 459–466.