1836例孕中期唐氏综合征产前筛查与诊断的临床研究  

Clinic study on screening and diagnosis of Down's syndrome in 1836 pregnant women at second-trimester

作　　者：钟小林[1] 李力[1] 易萍[1] 陈竹钦[1] 郑英如[1] 何祖国[1] 唐淑英[1] 黄寅虎[1] 

机构地区：[1]第三军医大学大坪医院妇产科,重庆400042

出　　处：《重庆医学》2009年第16期2025-2026,共2页Chongqing medicine

基　　金：国家自然科学基金资助项目(30672249)

摘　　要：目的探讨孕妇孕中期胎儿唐氏综合征(DS)为主的先天缺陷筛查的临床应用价值。方法应用时间分辨荧光免疫法测定1836例孕中期(15～20+6周)孕妇血清中甲胎蛋白(AFP)和游离β绒毛膜促性腺激素(freeβ-hCG)的浓度,应用Multicalc软件计算唐氏综合征风险度,风险切割值为1/270,对高风险孕妇进行羊水细胞染色体核型分析及B超检查进行确诊。结果孕15～20+6周孕妇血清AFP浓度随孕周的增加而增加,freeβ-hCG浓度随孕周的增加而减少。1836例孕妇中,共筛出高危孕妇118例,阳性率6.43%,其中唐氏征高危110例,有98例接受羊膜腔穿刺,占筛查DS高危孕妇的89.09%。发现胎儿染色体异常和其他异常共5例,假阳性率为6.15%。其中DS综合征1例,染色体平衡易位1例,经B超检查发现胎儿其他异常3例。结论孕中期产前筛查是预测异常胎儿和不良妊娠结局的重要指标。产前诊断是防止先天缺陷发生的重要手段之一。Objective To explore the clinical application valure in screening congenital fetal abnormality such as Down＇s syndrome（DS） in the pregnant women at second trimester（15-20^＋6 week）. Methods Serum samples were collected from 1 836 pregnant women at second trimester,and human chorionic gonadotropin（hCG） and alpha-fetoprotein（AFP） level were determined by time-resolved fluoroimmunoassay（TR-FIA,or DELFIA） method. Multiealc was used to calculate the risk rate of DS. Amniotic fluid cell chromosomes and ultrasonography were also conducted to those at high risk. Results Serum AFP level increased with the development of pregnance while free β-hCG level decreased. There were deceted 118 high risk gravida, the detective rate was 6.43% . Among the 110 cases with high risk of DS,98 cases 89.09% were performed with amniocentesis. Among the 5 fetus with chromosome abnormality（the false-positive rate was 6.15%） ,one was DS. Conclusion Antepartum screening of second-trimester pregnant women is a valid significance for predicting abnormal fetus and bad pregnance,and screening combined with prenatal diagnosis is an important method to protect birth defect.

关 键 词：唐氏综合征 甲胎蛋白 绒毛膜促性腺激素 产前筛查 

分 类 号：R714.5[医药卫生—妇产科学]