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更具侵入性的检查手段被用于检测年轻女性中的每一例唐氏综合征。

More invasive procedures are done to detect each case of Down's syndrome in younger women.

机构信息

Department of Obstetrics and Gynecology, Oulu University Hospital, Oulu, Finland.

出版信息

Acta Obstet Gynecol Scand. 2011 Jun;90(6):642-7. doi: 10.1111/j.1600-0412.2011.01113.x. Epub 2011 Apr 15.

Abstract

OBJECTIVE

To evaluate the performance of first-trimester combined screening in 5-year periods according to maternal age in a low-risk population.

DESIGN

A prospective study.

SETTING

Multicenter study in Finland.

POPULATION

A total of 76949 voluntary women with singleton pregnancies participated in first-trimester combined screening in public healthcare between 1 May 2002 and 31 December 2008.

METHODS

The serum samples were analyzed using the PerkinElmer AutoDELFIA® time-resolved fluoroimmunoassay kit for the measurement of pregnancy-associated plasma protein-A and free beta-human chorionic gonadotropin. Nuchal translucency was measured by trained personnel (midwives or physicians) in a university or central hospital.

MAIN OUTCOME MEASURES

Performance, detection rate, false positive rate and the number of invasive procedures needed to detect a single case of Down's syndrome were analyzed.

RESULTS

There was a direct connection between maternal age and the prevalence of Down's syndrome with a low prevalence in young women being 1:1 193 in the 25-29 age group and 1:150 in the 35-39 age group. Consequently, for a fixed false positive rate of 5%, the number of invasive procedures needed to detect one case of Down's syndrome is higher in younger women to achieve the same detection rate.

CONCLUSIONS

In combined first trimester screening the risk for Down's syndrome is individual, varying with maternal age. This should be taken into consideration when counseling women.

摘要

目的

在低危人群中,根据孕妇年龄评估早孕期联合筛查在 5 年内的表现。

设计

前瞻性研究。

地点

芬兰的多中心研究。

人群

共有 76949 名自愿参加的单胎妊娠孕妇,于 2002 年 5 月 1 日至 2008 年 12 月 31 日在公共医疗保健机构接受早孕期联合筛查。

方法

使用 PerkinElmer AutoDELFIA®时间分辨荧光免疫分析试剂盒分析血清样本,用于测量妊娠相关血浆蛋白-A 和游离β-人绒毛膜促性腺激素。由经过培训的人员(助产士或医生)在大学或中心医院测量颈项透明层。

主要观察指标

分析性能、检出率、假阳性率以及为检测到一个唐氏综合征病例所需的侵入性程序数量。

结果

孕妇年龄与唐氏综合征的患病率之间存在直接联系,年轻女性的患病率较低,25-29 岁年龄组为 1:1 193,35-39 岁年龄组为 1:150。因此,为了达到固定的 5%假阳性率,在年轻女性中,为了达到相同的检出率,需要进行更多的侵入性程序来检测一个唐氏综合征病例。

结论

在早孕期联合筛查中,唐氏综合征的风险是个体化的,随孕妇年龄而变化。在为女性提供咨询时应考虑到这一点。

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