血清学检测在21,18-三体综合征筛查中的应用价值  

Value of serum marker in screening for 21,18-trisomy syndrome

作　　者：邵娟 杨小康[2] 吴静[2] 张荣波[2] 胡乐林[2] 胡东[2] 

机构地区：[1]绍兴县安昌镇社区卫生服务中心,浙江绍兴312080 [2]安徽理工大学感染与免疫研究所,安徽合肥232001

出　　处：《中医儿科杂志》2013年第6期15-18,共4页Journal of Pediatrics of Traditional Chinese Medicine

基　　金：国家自然科学基金(81202294;81172778;61170172);安徽省高校省级自然科学研究产学研重点项目(KJ2013A105);安徽省自然科学基金(1208085QH162)

摘　　要：目的探讨了孕中期孕妇外周血中甲胎蛋白（AFP）、游离β人绒毛膜促性腺激素（free—β—HCG）和游离雌三醇（uE3）联合检测在21，18-三体综合征临床诊断中的价值。方法采用时间分辨免疫荧光分析法（DELFIA）对我院10624例15～20周孕妇血清中AFP，free—β—HCG和uE3的水平进行检测，并根据孕妇的年龄、孕周、体质量、胎数等因素采用配套软件对胎儿21-三体综合征（DS）和18-三体综合征（ES）进行风险评估，并对高危产妇行羊膜腔穿刺羊水细胞培养或脐血管穿刺脐血细胞培养染色体分析。结果10624例孕妇中，DS风险率高于临界值者513例，阳性率为4．83％，阳性者行染色体核型分析确诊6例；DS风险率低于临界值者胎儿分娩后检出2例，假阳性率为14．28％。ES风险率高于临界值者89例，阳性率0．84％，染色体分析确诊2例；ES风险率低于临界值者分娩后未检出ES患儿。结论血清学指标可有效预测胎儿三体综合征，是临床预防和降低先天性染色体异常疾病的主要手段。Objective To investigate the comprehensive value of peripheral blood alpha fetoprotein （ AFP ） , free beta human chorionic gonadotropin （free-β-HCG） and free estriol （uE3） in the diagnosis of 21 or 18-trisomy syndrome in second trimester. Methods Dissociation enhanced lauthanide fluoroimmunoassay （DELFIA） was applied to detect serum AFP, free-β-HCG and uE3 level of 10 624 cases of 15 -20 weeks pregnant women in our hospital, and according to maternal age, gestational weeks, body weight, fetal number to evaluate the risk of Down syndrome （DS） and 18 syndrome （ES）. High risk pregnant women underwent amniotic or umbilical cord blood vessel puncture to culture cells for chromosome analysis. Results Among the 10 624 cases, there were 513 cases whose DS risk rate was higher than the critical value, the positive rate was 4.83%, in which 6 cases were diag- nosed by karyotype analysis as positive; there were 2 cases whose DS risk rate was lower than the critical value diagnosed as DS after birth, false negative rate being 14.28%. There were 89 cases whose ES risk rate was higher than the critical value, the positive rate being 0.84% and 2 cases were diagnosed as ES by chromosome analysis; when ES risk rate was lower than the critical value the ES were not detected in patients after delivery. Conclusion Serological index can effectively predict fetal trisomy syndrome, is the main means for clinical prevention and re- duction of congenital abnormality of chromosome disease.

关 键 词：21-三体综合征 18-三体综合征 甲胎蛋白 游离β人绒毛膜促性腺激素 游离雌三醇 

分 类 号：R596.1[医药卫生—内科学]