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Estimation of the number of people with Down syndrome in Europe
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-10-31 , DOI: 10.1038/s41431-020-00748-y
Gert de Graaf 1 , Frank Buckley 2, 3 , Brian G Skotko 4, 5
Affiliation  

We aimed to estimate the nonselective live birth prevalence, actual live birth prevalence, reduction percentage because of selective terminations, and population prevalence for Down syndrome (DS) in European countries. The number of people with DS alive in a country was estimated by first modeling the number of live births of children with DS by year of birth. Subsequently, for these different years of birth, survival curves for people with DS were constructed and then applied to these yearly estimates of live births with DS. For Europe, 2011–2015, we estimate 8,031 annual live births of children with DS, which would have been around 17,331 births annually, absent selective terminations. The estimated reduction of live birth prevalence was, on average, 54%, varying between 0% in Malta and 83% in Spain. As of 2015, we estimate 417,000 people with DS are living in Europe; without elective terminations, there would have been about 572,000 people with DS, which corresponds to a population reduction rate of 27%. Such statistics can be important barometers for prenatal testing trends and resource allocation within countries. Disability awareness initiatives and public policy initiatives can also be better grounded with these more precise estimates.



中文翻译:

估计欧洲患有唐氏综合症的人数

我们旨在估计欧洲国家的非选择性活产患病率、实际活产患病率、选择性终止妊娠导致的减少百分比以及唐氏综合症 (DS) 的人口患病率。通过首先对出生年份的 DS 患儿的活产数进行建模,估计一个国家的 DS 存活人数。随后,对于这些不同的出生年份,构建了 DS 患者的生存曲线,然后将其应用于这些 DS 活产的年度估计值。对于欧洲,2011-2015 年,我们估计每年有 8,031 名 DS 患儿活产,如果没有选择性终止,这将是每年大约 17,331 名新生儿。估计活产率平均降低 54%,介于马耳他的 0% 和西班牙的 83% 之间。截至 2015 年,我们估计有 417 个,000 名 DS 患者生活在欧洲;如果没有选择性终止,大约有 572,000 人患有 DS,这对应于 27% 的人口减少率。这些统计数据可以成为衡量各国产前检测趋势和资源分配的重要晴雨表。残疾意识倡议和公共政策倡议也可以更好地基于这些更精确的估计。

更新日期:2020-11-02
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