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中国唐氏综合征出生患病率的近期趋势:产前诊断及后续终止妊娠的影响

Recent trends in the birth prevalence of Down syndrome in China: impact of prenatal diagnosis and subsequent terminations.

作者信息

Deng Changfei, Yi Ling, Mu Yi, Zhu Jun, Qin Yanwen, Fan Xiaoxiao, Wang Yanping, Li Qi, Dai Li

机构信息

National Center for Birth Defects Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China.

出版信息

Prenat Diagn. 2015 Apr;35(4):311-8. doi: 10.1002/pd.4516. Epub 2015 Feb 16.

DOI:10.1002/pd.4516
PMID:25315427
Abstract

OBJECTIVE

This study aims to analyze recent trends in Down syndrome (DS) prevalence in China and evaluate the impact of prenatal diagnosis and subsequent terminations.

DESIGN

A birth defects surveillance-based retrospective study was adopted.

METHODS

On the basis of the 1996 to 2011 surveillance data for DS from Chinese Birth Defects Monitoring Network, we examined the total prevalence ratio (TPR), perinatal prevalence ratio (PPR) and percentages of prenatally identified cases and of terminations by periods (before and after 2003), birth area, gender and maternal-age classifications.

RESULTS

Down syndrome TPR was 3.05 per 10 000 births during 2003 to 2011, with significant differences between urban-rural, gender and maternal-age groups. DS PPR during 1996 to 2011 was 1.99 per 10 000, presenting an increasing trend till 2003 but a decreasing tendency since then. The proportion of DS diagnosed prenatally increased from 7.55% during 1996 to 2002 to 47.70% during 2003 to 2011, varying by birth area and maternal age. During 2003 to 2011, the high termination rate led to 55% reduction in the overall DS PPR and 62% and 36% decreases in urban and rural PPRs.

CONCLUSION

The important reduction in the PPR suggests that current strategies in China for the prenatal screening and diagnosis of DS are effective. However, significant urban-rural variations in TPR and PPR indicate an urgent need to strengthen prenatal care for DS in rural regions.

摘要

目的

本研究旨在分析中国唐氏综合征(DS)患病率的近期趋势,并评估产前诊断及后续终止妊娠的影响。

设计

采用基于出生缺陷监测的回顾性研究。

方法

根据中国出生缺陷监测网络1996年至2011年的DS监测数据,我们按时间段(2003年前后)、出生地区、性别和母亲年龄分类,检查了总患病率(TPR)、围产期患病率(PPR)以及产前确诊病例和终止妊娠的百分比。

结果

2003年至2011年期间,唐氏综合征的TPR为每10000例出生3.05例,城乡、性别和母亲年龄组之间存在显著差异。1996年至2011年期间,DS的PPR为每10000例1.99例,到2003年呈上升趋势,但此后呈下降趋势。产前诊断出的DS比例从1996年至2002年的7.55%增至2003年至2011年的47.70%,因出生地区和母亲年龄而异。2003年至2011年期间,高终止妊娠率使总体DS PPR降低了55%,城市和农村PPR分别降低了62%和36%。

结论

PPR的显著降低表明中国目前的唐氏综合征产前筛查和诊断策略是有效的。然而,TPR和PPR在城乡之间存在显著差异,这表明迫切需要加强农村地区唐氏综合征的产前护理。

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