de Graaf Gert, Buckley Frank, Skotko Brian G
Dutch Down Syndrome Foundation, Meppel, the Netherlands.
Am J Med Genet A. 2015 Apr;167A(4):756-67. doi: 10.1002/ajmg.a.37001.
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.
唐氏综合征(DS)目前和未来的活产患病率对于规划服务以及确定支持唐氏综合征患者的研究优先级具有实际重要意义。活产患病率受产前筛查技术和政策变化的影响。为了预测这些变化的未来影响,需要一个估算唐氏综合征患者活产数的模型。在本研究中,我们将多样且可靠的数据集与经过验证的估算技术相结合,以描述1900年至2010年美国唐氏综合征的非选择性活产患病率。此外,对于1974年至2010年期间,我们估算了与唐氏综合征相关的选择性妊娠终止(在产前诊断为唐氏综合征之后)对唐氏综合征活产数的影响。最近几年(2006年至2010年)唐氏综合征的活产患病率估计为每10,000例中有12.6例(95%置信区间12.4 - 12.8),每年约有5,300例出生。在此期间,美国每年估计进行3,100例与唐氏综合征相关的选择性妊娠终止。截至2007年,就整个美国而言,因与唐氏综合征相关的选择性妊娠终止而导致的唐氏综合征活产数减少的估计比例为30%(95%置信区间:27.3 - 31.9)。我们的结果和模型提供了关于选择性妊娠终止对唐氏综合征活产数影响的数据,并可能提供一个基线,据此可以估算唐氏综合征活产数的未来趋势。