摘要
目的探讨孕中期产前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2616例孕中期(14~24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,其中AFP、β-HCG使用电化学发光法,uE3使用酶联免疫法检测;使用T21﹡SOFTw筛查软件评估风险。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5.73%、0.34%、1.11%;高风险孕妇经产前诊断确诊唐氏综合征1例,神经管缺陷2例,其它染色体异常疾病3例。结论对孕中期孕妇进行产前筛查,是减少患染色体疾病和神经管缺陷患儿出生的有效方法;在筛查软件中应对诸多影响因素予以校正,而孕周的准确与否对筛查结果影响较大。
Objective To evaluate the efficiency of screening specific biomarkers in the second-trimester pregnant women. Methods Serum levels ofAFP,β- HCG and uE3 were measured by CLIA or ELISA in 2616 pregnant women during 14~24 weeks, and the risk rate was analyzed with the T21 * SOFTw program, the high-risk pregnant women were proposed to take fetal amniotic fluid or high resolution ultrasound examination. Results The high-risk rates for Down's syndrome, 18 - trisomy syndrome and neural tube defects were 5.73%, 0.34%, 1.11% respectively; there were one Down's syndrome and two neural tube defects, three other chromosomal abnormalities by prenatal diagnosis. Conclusion Screening analysis of second-trimester pregnancy serum is a major to prevent chromosomal disease and neural tube defects; the precise gestational age is the most important factor in the screening software.
出处
《分子诊断与治疗杂志》
2010年第1期37-39,共3页
Journal of Molecular Diagnostics and Therapy
关键词
孕中期
产前筛查
出生缺陷
Second trimester
Prenatal screening
Birth defects