摘要
目的通过对2011年-2015年和2016年的21-三体综合征的高风险因素进行比较分析,以了解全面二孩政策对21-三体综合征的产前诊断影响。方法通过对杭州市产前诊断中心166例21-三体综合征(其中2011年1月至2015年12月93例和2016年73例)进行病例回顾,综合分析其发病年龄、高风险因素、高通量基因测序产前筛查及产前诊断B超检查结果,了解全面二孩政策对21-三体综合征发病率、高风险因素及年龄构成比例的变化。结果 2011年-2015年羊水穿刺5864例,确诊21-三体综合征93例(阳性率1.58%)。2016年羊水穿刺2432例,确诊21-三体综合征73例(阳性率3.00%)。2011年-2015年与2016年的21-三体阳性比例的差异有统计学意义(χ2=17.570,P<0.05)。2011年-2015年21-三体综合征中最高的高危因素为唐氏筛查高风险(50.54%),2016年的最高危险因素则是高龄(45.20%)。结论全面二孩政策开放后,高龄孕妇显著增加,导致21-三体综合征发病率增加,年龄构成比趋向高龄化,加强筛查力度,规范化开展孕妇外周血胎儿游离DNA产前筛查与诊断工作,提高21-三体综合征的产前诊断率,有效降低出生缺陷。
Objective：To comparative analysis the prenatal diagnosis of fetuses with trisomy 21 syndrome in order to understand the effects of universal two-child policy. Methods：The clinical data of 166 fetuses with trisomy 21 syndrome confirmed by prenatal diagnosis（93 fetuses during Jan 2011 to Dec 2015 and 73 fetuses during Jan 2016 to Dec 2016）were collected in Hangzhou Prenatal Diagnosis Center. To comparative analysis the difference of incidence、high risk factors and age proportion in order to understand the effects of universal two-child Policy. Results：Among 5864 fetuses during Jan 2011 to Dec 2015,93 fetuses was diagnosed with trisomy 21 syndrome（positive rate 1.58%）. Among 2432 fetuses during Jan 2016 to Dec 2016,73 fetuses was diagnosed（positive rate 3.00%）. A significant differences between them（χ^2=17.570,P〈0.05）. The highest risk factor during Jan 2011 to Dec 2015 was high risk of Down syndrome screening,but it was advanced age during Jan 2016 to Dec 2016. Conclusion：After universal two-child Policy,advanced age pregnant woman increased significantly. We need to pay attention to prenatal diagnosis of trisomy 21 syndrome,in order to reduce the risk of birth defects.
作者
王敏
张闻
梅瑾
WANG Min ZHANG Wen MEI Jin(Hangzhou Obstic. ＆ Ggnicol Hospital, Hangzhou, Zhejiang 310008, China)
出处
《中国优生与遗传杂志》
2017年第4期74-76,共3页
Chinese Journal of Birth Health & Heredity
基金
杭州市重点专病专科项目(20150733Q36)
关键词
21-三体综合征
全面二孩政策
产前诊断
Trisomy 21 syndrome
Universal two-child policy
Prenatal diagnosis
