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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 relationship between Down’s screening results and fetal chromosome karyotypes in high-risk pregnant women in the second trimester of pregnancy in Guangzhou. Methods: From July 2007 to June 2012 in Guangzhou, birth defects intervention project, gestational age at 14 ~ 20 + 6 weeks pregnant women screening for Down Syndrome, Down’s screening of high-risk and other have Pregnant women with indications for prenatal diagnosis of fetal cell karyotypes are followed up until fetal birth. Results: A total of 51 213 pregnant women undergoing Down ’s screening screened 2 944 high - risk pregnant women. The high - risk rate of Down’ s screening test at age <35 was 5.21%. The high risk rate of ≥35 was 30.92%. The high-risk rate was significantly different between pregnant women of different ages (χ2 = 1 982.5, P <0.0001) .2,880 pregnant women with prenatal diagnosis indications were fetched for chromosomal abnormalities, of which 71 Cases of chromosomal abnormalities, abnormal rate was 2.50%, 25 cases of trisomy 21, 140 cases of chromosome polymorphism, chromosome polymorphism was 4.92%; 35 and 35 years pregnant women receiving prenatal diagnosis of chromosomal abnormalities (including Chromosome polymorphisms) rates were 7.96% and 7.27%, respectively (P> 0.05). In Down’s screening high risk, critical risk and low risk prenatal diagnosis of pregnant women, chromosomal abnormalities (including chromosome polymorphisms) rates were 10.88% , 6.98% and 7.92% respectively (P <0.05). In the newborns’ follow-up, 6 cases were found chromosomal abnormalities. Conclusion: The second trimester serological screening combined with other indications for prenatal diagnosis has important clinical value in predicting fetal chromosomal diseases.