唐氏综合征按母亲年龄划分的活产患病率的修订估计值。

Revised estimates of the maternal age specific live birth prevalence of Down's syndrome.

作者信息

Morris J K, Mutton D E, Alberman E

机构信息

Department of Environmental and Preventive Medicine, Wolfson Institute of Preventive Medicine, St Bartholomew's, UK.

出版信息

J Med Screen. 2002;9(1):2-6. doi: 10.1136/jms.9.1.2.

DOI:10.1136/jms.9.1.2

PMID:11943789

Abstract

OBJECTIVES

To revise the estimates of maternal age specific live birth prevalence of Down's syndrome in the absence of antenatal screening and selective termination using newly available data.

SETTING AND DESIGN

Data were used from the National Down Syndrome Cytogenetic Register (NDSCR), which contains information on nearly all antenatally or postnatally diagnosed cases of Down's syndrome in which a karyotype was confirmed between 1989 and 1998 in England and Wales. It is the largest single series of data on the prevalence of Down's syndrome.

RESULTS AND CONCLUSION

The prevalence does not continue increasing at an increasing rate with age above age 45 as has been previously assumed. Above this age the rate of increase declines with increasing age. The overall age pattern is sigmoidal. A new logit logistic model is proposed which fits the data well. The risk of a Down's syndrome live birth is given by: risk=1/(1+exp(7.330-4.211/(1+exp(-0.282x(age-37.23))))).

摘要

目的

利用最新可得数据，修正无产前筛查及选择性终止妊娠情况下唐氏综合征按产妇年龄划分的活产患病率估计值。

背景与设计

数据来自全国唐氏综合征细胞遗传学登记处（NDSCR），其中包含1989年至1998年间在英格兰和威尔士确诊核型的几乎所有产前或产后诊断的唐氏综合征病例信息。这是关于唐氏综合征患病率的最大单一数据集。

结果与结论

患病率并非如先前假设的那样在45岁以上随年龄增长持续以递增速率上升。在此年龄之上，增长速率随年龄增加而下降。总体年龄模式呈S形。提出了一种新的对数逻辑模型，该模型与数据拟合良好。唐氏综合征活产风险由以下公式给出：风险=1/(1 + exp(7.330 - 4.211/(1 + exp(-0.282×(年龄 - 37.23))))) 。