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首页> 外文期刊>Paediatric and perinatal epidemiology >Descriptive epidemiology of Down's syndrome in Estonia.
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Descriptive epidemiology of Down's syndrome in Estonia.

机译：爱沙尼亚唐氏综合症的描述性流行病学。

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The aim of the study was to investigate the livebirth prevalence of Down's syndrome (DS) in Estonia during the past 14 years, create a DS database and observe the effectiveness of prenatal screening. This is a population-based descriptive study. The study subjects were children with DS diagnosis born between the years 1990 and 2003. We collected data from genetic centres in Estonia, from the databases of DS support groups, from institutions for disabled children and from the registers of family doctors/paediatricians. Prenatal screening for chromosomal anomalies for women aged >or=35 years was started in Estonia in 1995. Therefore, we divided the DS children into two groups: 112 born between 1990 and 1994 comprise group I, and 127 born between 1995 and 2003 comprise group II. Group II was further divided into two subgroups: IIa, from 1995 to 1998, when screening of advanced maternal age (>or=35 years) commenced, and IIb, from 1999 to 2003, when screening of second trimester maternal serum for younger women commenced. Prenatally, 68 cases of DS were diagnosed between 1995 and 2003 in the whole of Estonia, and all of these pregnancies were terminated. This represents 34.9% of all delivered and prenatally detected DS cases from this period. The overall livebirth prevalence was 1.17 per 1000 livebirths. The livebirth prevalence in group I was 1.25 and in group II was 1.09 per 1000 livebirths. The second trimester maternal serum screening with advanced maternal age screening was more effective than advanced maternal age screening alone. The livebirth prevalence in group IIa was 1.22 and in group IIb 0.99 per 1000 livebirths. Overall, regular trisomy was found in 90.4%, translocation in 6.3% and mosaicism in 2.9%. The overall male to female sex ratio of DS was 1.09.
机译：该研究的目的是调查过去14年中爱沙尼亚唐氏综合症（DS）的存活率，建立一个DS数据库并观察产前筛查的有效性。这是一项基于人口的描述性研究。研究对象是1990年至2003年之间出生的患有DS诊断的儿童。我们从爱沙尼亚的遗传中心，DS支持小组的数据库，残疾儿童机构以及家庭医生/儿科医生的名册中收集了数据。爱沙尼亚于1995年开始对年龄大于或等于35岁的女性进行染色体异常的产前筛查。因此，我们将DS儿童分为两组：第一组在1990年至1994年之间出生的婴儿112例，第一组在1995年至2003年之间出生的127例儿童二。第二组进一步分为两个子组：IIa，从1995年至1998年，开始筛查高龄产妇年龄（≥35岁）; IIb，从1999年至2003年，开始筛查年轻女性的孕中期产妇血清。在产前，1995年至2003年整个爱沙尼亚共诊断出68例DS患儿，所有这些妊娠均已终止。这占该时期所有分娩和产前检测到的DS病例的34.9％。总体出生率是每1000例婴儿中1.17例。第一组的活产患病率为1.25，第二组的活产患病率为每1000个活产1.09。孕晚期孕妇的孕中期血清筛查比单纯晚期孕妇年龄筛查更有效。 IIa组的活产率是1.22，IIb组的活产率是每1000个活产0.99。总体而言，常规三体检出率为90.4％，易位检出率为6.3％，镶嵌现象为2.9％。 DS的总体男女性别比为1.09。

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