3128例孕妇唐氏综合征筛查结果分析

目的探讨孕中期妇女产前唐氏筛查的临床应用价值,并探讨影响其风险值的主要因素。方法检测3 128例孕中期（14周～21周）孕妇血清中的甲胎蛋白（AFP）、人绒毛膜促性腺激素β亚单位（β-HCG）和游离雌三醇（uE3）的浓度。AFP、β-HCG、uE3均采用微粒子化学发光法检测,使用唐氏筛查软件（上海天臣计算机软件有限公司设计）评估风险。建议唐氏综合征或18-三体综合征高风险孕妇行胎儿羊水染色体核型分析,神经管缺陷高风险者接受高分辨超声检查。结果唐氏综合征、18-三体综合征、神经管缺陷高风险发生率分别为5.58%、0.41%、1.32%。高风险孕妇经产前诊断确诊唐氏综合征5例,18-三体综合征1例,神经管缺陷4例,其它染色体异常疾病3例。结论对孕中期孕妇进行产前唐氏筛查是减少患染色体疾病和神经管缺陷及唐氏综合征患儿出生的有效方法;在筛查软件中应对诸多因素予以校正,而孕周的准确与否对筛查结果影响最大。

Screening of Down,,s Syndrome of 3128 Pregnant Women during the Second Trimester

Objective To evaluate the efficiency of screening down＇s syndrome in the second-trimester pregnant women.Methods Serum levels of AFP、β-HCG and uE3 were measured by microparticle chemiluminescent smmunoassay.In 3128 pregnant women during 14～21 weeks,and the risk rate was analyzed with the Down＇s syndrome program,the high-risk pregnant women were proposed to take fetal amniotic fluid or high resolution ultrasound examination.Results The high-risk rules for Down＇s syndrome,18-trisomy syndrome and neural tube defects were 5.58%,0.41%,1.32% respectively;there were five Down＇s syndrome,one 18-trisomy syndrome and four neural tube defects,three other chromosomal abnormalities by prenatal diagnosis.Conclusion Screening Down＇s syndrome of second-trimester pregnant is a major to prevent chromosomal disease and neural tube defects,the precise gestational age is the most important factor in the screening software.