孕期唐氏综合征的血清筛查和产前诊断临床分析  

The analyse on clinic treatment of Serological screening and antenatal diagnosis of patients with Down′s syndrome in pregnancy

作　　者：王瓅 李霞 李常清 李映桃[2] 杨承东 赵雁薇 黎翠容 

机构地区：[1]广东省广州市白云区妇幼保健院,510400 [2]广州医学院第三附属医院妇产科

出　　处：《中国优生与遗传杂志》2009年第3期39-40,116,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的提高出生人口的素质，预防和减少缺陷儿的出生。方法对2002年1月至2007年6月参加优生监护的孕9—20^＋6周，共2218例孕妇进行唐氏综合征的筛查，取孕妇血清检测孕早期妊娠相关血浆蛋白-A（PAPP—A）；孕中期甲胎蛋白（AFP）、游离-β-绒毛膜促性腺激素（Free—β—HCG）、游离E3（uE3），进行孕期胎儿21三体综合征、18三体综合征及神经管缺陷（NTD）的产前筛查，对高风险孕妇在知情的情况下，自愿选择进行羊膜腔穿刺羊水，脐血染色体核型分析。结果筛查出高危孕妇157例，自愿进行羊水，脐血染色体核型诊断71例，占高危孕妇的55．47％。检测出21三体2例，其它异常核型2例。结论利用孕妇血清进行孕期胎儿无创伤性产前筛查，结合产前诊断，及时终止妊娠，对提高人口素质具有一定的意义。Objective： To improve the quality of newborn population and to prevent the fetal birth with disfigurement. Methods： 2218 pregnant women with 9 -20^＋6 who attend the prepotency ward from Jan. 2002 to Jun. 2007 were screened on Down＇s syndrome. By taking the serum of pregnant women to check PAPP - A correlating to the early period of pregnancy, AFP correlating to the middle period of pregnancy, Free -β - HCG and free -E3 , they were antenatal screened for 21 -trisome syndrome, 18 -trisome syndrome and NTD. So, these pregnancy women at high risk will have amniotie cavity puncture for chromosome analysis at their will. Results： 157 pregnancy women at high risk were screened, 71 of them who accounted for 55. 47% were willing to have the chromosome analysis of amniotic fluid or cord blood. Two cases of 21 - trisome syndrome were checked, and so with the two of other abnormity. Conclusion ： It has very important significance for improving the quality of newborn population to make the fetus in period of pregnancy antenatal screened with no harm by taking the serum of pregnant women, and stop pregnancy of bad results timely.

关 键 词：21三体综合征 神经管缺陷 产前筛查 染色体异常 

分 类 号：R714.55[医药卫生—妇产科学]