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摘要:
目的 了解2011-2018年上海市唐氏综合征(Down's syndrome, DS)发生率和流行病学特征, 分析产前筛查和产前诊断政策的影响效应。 方法 回顾性分析2011-2018年上海市897例DS的病例资料, 包括活产和治疗性引产中的DS婴(胎)儿。 结果 2011-2018年, 上海市DS发生率5.36/10000, 治疗性引产DS发生率在(0.90~5.80)/10000之间, 自2014年开始波动中有升(χ2趋势=95.74, P < 0.001);而活产DS发生率在(0.80~5.04)/10000之间, 自2015年起显著下降, 不同年度间差异有统计学意义(χ2趋势=97.15, P < 0.001)。男性发生率高于女性, 上海户籍人口发生率高于外来人口。治疗性引产DS胎儿父母亲高龄和经产妇比例年度间差异有统计学意义(均有P < 0.001)。 结论 活产DS发生率的下降提示现有产前筛查和产前诊断政策取得了一定效果, 需不断完善DS产前筛查网络, 提升产前诊断服务水平, 以适应"二孩"政策下的DS防控需要, 提高出生人口素质。 Abstract:Objective To analyze recent trends in Down's syndrome (DS) prevalence in Shanghai and evaluate the impact of the policy on prenatal screening and diagnosis. Methods 897 cases of DS between 2011 to 2018 were analyzed retrospectively, including live births and elective terminations with DS. Results The overall prevalence of DS was 5.36 per 10 000 births during 2011-2018, with significant differences between registered and immigrant population as well as gender groups (all P < 0.05). Prevalence of DS in terminations was 0.90 to 5.80 per 10 000, presenting an increasing trend with fluctuation since 2014 (χ2trend=95.74, P < 0.001). While perinatal prevalence of DS was 0.80 to 5.04 per 10 000, showing a decreasing tendency since 2015 (χ2trend=97.15, P < 0.001). The proportion of those with advanced parental age and multiparas among DS in terminations varied year by year (all P < 0.001). Conclusions The important reduction in live birth with DS suggests that the current strategies in Shanghai for prenatal screening and diagnosis of DS are effective. However, the prenatal screening network and service capacity of prenatal diagnosis need to be improved to meet the demand of prevention and control of DS under the Two-child policy. -
Key words:
- Down's syndrome /
- Epidemiological characteristics /
- Prenatal screening
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图 1 2011—2018年上海市DS发生率(/10 000)
Figure 1. Prevalence of DS in Shanghai from 2011 to 2018 (/10 000)
表 1 2011—2018年上海市DS特征别发生率
[n(/10 000)] Table 1. Specific prevalence of DS in Shanghai from 2011 to 2018
[n(/10 000)] 变量 活产儿 活产DS 治疗性引产DS 性别 男 880 167 231(2.62) 261(2.97) 女 791 560 165(2.08) 173(2.19) χ2值 5.13 9.76 P值 0.023 0.002 是否上海户籍 是 714 097 175(2.45) 272(3.81) 否 960 188 173(1.80) 220(2.29) χ2值 8.30 32.11 P值 < 0.001 < 0.001 注：性别、户籍不详的DS未纳入发生率计算。 
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表 2 人口结构对2011—2018年上海市活产DS的影响
Table 2. Effects of population on perinatal DS in Shanghai from 2011 to 2018
年份 仅母亲
高龄仅父亲
高龄双亲均
高龄双亲非
高龄初产妇 经产妇 2011 7 3 8 68 5 81 2012 9 0 8 52 4 65 2013 10 2 17 81 49 61 2014 5 0 4 23 9 23 2015 4 2 3 28 6 31 2016 6 0 2 23 8 23 2017 2 1 6 17 1 25 2018 2 2 1 9 3 11 χ2趋势值a 2.50 1.88 P值 0.114 0.171 注：a χ2趋势值：因“仅父亲高龄”者过少，故进行χ2趋势检验时，将“仅父亲高龄”和“仅母亲高龄”两组合并。
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表 3 人口结构对2011—2018年上海市治疗性引产DS的影响
Table 3. Effects of population on elective terminations with DS in Shanghai from 2011 to 2018
年份 仅母亲
高龄仅父亲
高龄双亲均
高龄双亲非
高龄初产妇 经产妇 2011 2 0 1 15 16 2 2012 12 0 3 22 27 10 2013 9 0 11 32 29 23 2014 10 0 12 37 38 21 2015 16 1 5 35 39 18 2016 23 0 1 50 56 36 2017 25 0 20 31 28 48 2018 39 2 12 48 46 55 χ2趋势值a 12.78 21.22 P值 < 0.001 < 0.001 注：a χ2趋势值：因“仅父亲高龄”者过少，故进行χ2趋势检验时，将“仅父亲高龄”和“仅母亲高龄”两组合并。
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