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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。
Objective To explore the clinical value of prenatal screening of Down’s syndrome in pregnant women of the second trimester, and to explore the main factors affecting the risk value. Methods Serum levels of AFP, β-HCG and uE3 in 3 128 pregnant women at the second trimester (14 weeks to 21 weeks) were measured. AFP, β-HCG, and uE3 were detected by the microparticle chemiluminescence method, and the risk was evaluated using Down’s screening software (designed by Shanghai Tienchen Computer Software Co., Ltd.). Proposed Down Syndrome or 18-trisomy syndrome high risk pregnant women line fetal amniotic fluid karyotype analysis, high risk of neural tube defects were high-resolution ultrasound. Results The incidence of Down’s syndrome, 18-trisomy syndrome and high risk of neural tube defects were 5.58%, 0.41% and 1.32% respectively. Prenatal diagnosis of high-risk pregnant women diagnosed Down Syndrome in 5 cases, 18 cases of trisomy syndrome in 1 case, 4 cases of neural tube defects, and other chromosomal abnormalities in 3 cases. Conclusion Prenatal Down’s screening of pregnant women during the second trimester is an effective method to reduce the birth of children with chromosomal diseases and neural tube defects and Down’s syndrome. Many factors should be corrected in the screening software, No Impact on screening results.