Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States

American Journal of Medical Genetics, Part A - Tập 167 Số 4 - Trang 756-767 - 2015
Gert de Graaf1, F. Buckley2,3, Brian G. Skotko4
1Dutch Down Syndrome Foundation, Meppel, The Netherlands
2Down Syndrome Education International, Kirkby Lonsdale, Cumbria, UK
3Down Syndrome Education USA, Newport Beach, California
4Department of Pediatrics, Division of Medical Genetics, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts

Tóm tắt

The present and future live birth prevalence of Down syndrome (DS) is of practical importance for planning services and prioritizing research to support people living with the condition. Live birth prevalence is influenced by changes in prenatal screening technologies and policies. To predict the future impact of these changes, a model for estimating the live births of people with DS is required. In this study, we combine diverse and robust datasets with validated estimation techniques to describe the non‐selective and live birth prevalence of DS in the United States from 1900–2010. Additionally, for the period 1974–2010, we estimate the impact of DS‐related elective pregnancy terminations (following a prenatal diagnosis of DS) on the live births with DS. The live birth prevalence for DS in the most recent years (2006–2010) was estimated at 12.6 per 10,000 (95% CI 12.4–12.8), with around 5,300 births annually. During this period, an estimated 3,100 DS‐related elective pregnancy terminations were performed in the U.S. annually. As of 2007, the estimated rates at which live births with DS were reduced as a consequence of DS‐related elective pregnancy terminations were 30% (95% CI: 27.3–31.9) for the U.S. as a whole. Our results and our model provide data on the impact of elective pregnancy terminations on live births with DS and may provide a baseline from which future trends for live births with DS can be estimated. © 2015 Wiley Periodicals, Inc.

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