广州市孕中期唐氏筛查及产前诊断结果分析  

Analysis on the results of Down's syndrome screening and prenatal diagnosis during the second trimester of pregnancy in Guangzhou

作　　者：江帆 刘旭 陈桂兰 左连东 屈艳霞 王霞 唐芳 唐盈 辜俊梅 袁玉枝 吴伟雄 

机构地区：[1]广东省广州市人口和计划生育科学研究所优生遗传科,510460 [2]广州市黄埔区人口和计划生育服务站 [3]广州市番禺区计生服务站妇科

出　　处：《中国妇幼保健》2014年第26期4307-4310,共4页Maternal and Child Health Care of China

基　　金：国家"十一五"科技支撑计划〔2006BAI05A02〕;广东省计生委基金〔2008011〕;〔2009208〕;〔20133021〕;广东省科技厅课题〔2010B060100014〕

摘　　要：目的：分析广州市孕妇孕中期唐氏筛查结果及高危孕妇胎儿染色体核型关系。方法：对2007年7月-2012年6月期间参与广州市出生缺陷干预项目,孕龄在14-20＋6周的孕妇进行唐氏综合征筛查,对唐氏筛查高风险及其他具有产前诊断指征的孕妇进行胎儿细胞染色体核型分析并追踪至胎儿出生。结果：进行唐氏筛查孕妇共51 213例,筛查出高风险孕妇2 944例,〈35岁年龄段唐氏筛查检测结果高风险率为5.21%,≥35岁年龄段高风险率为30.92%,高风险率在不同年龄孕妇之间比较,差异有统计学意义（χ2=1 982.5,P〈0.000 1）;2 840例具有产前诊断指征的孕妇接受了胎儿染色体检查,其中71例染色体异常,异常率为2.50%,21-三体综合征25例,染色体多态140例,染色体多态率为4.92%;≥35和﹤35周岁接受产前诊断孕妇中,染色体异常（包括染色体多态）率分别为7.96%和7.27%（P〉0.05）;唐氏筛查高风险、临界风险及低风险接受产前诊断孕妇中,染色体异常（包括染色体多态）率分别为10.88%、6.98%和7.92%（P〈0.05）;新生儿随访中,发现染色体异常6例。结论：孕中期血清学筛查联合其他产前诊断指征对于预测胎儿染色体病具有重要临床价值。Objective： To analyze the results of prenatal screening for Downg syndrome during the second trimester of pregnancy and the relationship with fetal chromosomal karyotypes of high risk pregnant women. Methods ： The pregnant women participated in birth defects intervention project in Guangzhou from July 2007 to June 2012, Downg syndrome screening was perfornled among the pregnant women of 14 -20 ＋6 gestational weeks, fetal chromosomal karyotyping was conducted among the pregnant women with high risk of Down＇s syndrome screening and other indications of prenatal diagnosis, all the pregnant women were followed up until delivery. Results： A total of 51 213 pregnant women participated in Down ＇s syndrome screening, and 2 944 pregnant women were fbuud with high risk, the high risk rates of Downg syndrome screening among pregnant women under 35 years old and ≥ 35 years old were 5.21% and 30. 92% , respectively, there was statistically significant difference between the pregnant women in the two age groups （x^2 = 1 982. 5, P 〈 0. 000 1 ） ; fetal chromosomal exami nation was conducted among 2 840 pregnant women with indications of prenatal diagnosis, 71 cases were diagnosed as chromosomal abnormalities, the incidence rate was 2. 50%; 25 cases were diagnosed as trisomy 21 syndrome; 140 pregnant women were diagnosed as chromosome polymorphism, the incidence rate was 4. 92%. Among the pregnant women ≥35 years old and 〈 35 years old receiving prenatal diagnosis, the incidence rates of chromosomal abnormalities （ including chromosome polymorphism） were 7.96% and 7. 27%, respectively, there was no statistically significant difference （P 〉 0. 05） ; among the pregnant women with high risk, critical risk and low risk Down＇s syndrome screening, the incidence rates of chromosomal abnormalities （including chromosome polymorphism） were 10. 88%, 6. 98% and 7. 92%, respectively, there was statistically significant difference （P 〈0. 05） ; 6 cases with chromosomal abnormalities were found durin

关 键 词：孕中期 唐氏筛查 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]