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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 compare the high risk factors of trisomy 21 in 2011-2015 and 2016 to understand the prenatal diagnosis of trisomy 21. Methods A retrospective review was conducted on 166 cases of trisomy 21 in Hangzhou Prenatal Diagnosis Center (including 93 cases from January 2011 to December 2015 and 73 cases in 2016). The age, high risk factors, High throughput gene sequencing prenatal screening and prenatal diagnosis of B-ultrasound results to understand the full two-child policy on the incidence of 21 trisomy syndrome, high risk factors and changes in the age composition ratio. Results From 2011 to 2015, 5864 cases of amniocentesis and 93 cases of 21-trisomy syndrome (positive rate 1.58%) were confirmed. In 2016, 2432 cases of amniocentesis and 73 cases of 21-trisomy syndrome were diagnosed (the positive rate was 3.00%). The difference of 21-trisomy between 2011-2015 and 2016 was statistically significant (χ2 = 17.570, P <0.05). The highest risk factor for trisomy 21 in 2011-2015 was high (50.54%) in Down’s disease and the highest risk in 2016 (45.20%). Conclusion After the comprehensive two-child policy was opened, the number of pregnant women significantly increased, leading to an increased incidence of 21-trisomy syndrome and an aging age-old ratio. The screening efforts were intensified to standardize fetal prenatal screening and diagnosis of fetal DNA in pregnant women Work to improve the prenatal diagnosis of 21-trisomy syndrome, effectively reduce birth defects.