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先天性疾病的人群筛选 被引量:3

Population screening of congenital malformations
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摘要 先天性疾病筛选是当前公共卫生项目中的一个重要部分。人群筛选的目的就是要鉴别那些确实有先天性疾病的新生儿 ,以便采取措施。所以 ,人群筛选和产前诊断是很重要的措施。母亲年龄作为一个危险因素 ,被用于先天性疾病的筛选。某些产前诊断技术 ,如母血清筛选 ,涉及到胎儿标志物的应用。同时在许多方面 ,应用母血中胎儿甲胎蛋白、游离雌三醇、绒毛膜促性腺激素等的检测 ,作为先天性疾病的危险性评价 ,这就是所谓的三联标志物筛选。从母血中检测胚胎细胞的无创伤性产前诊断技术和基因检测技术也已用于人群筛选项目。 Congenital malformation screening program is now an important part of public health program. Population screening originally had the objective of identifying newborns with congenital disorders that could be treated if diagnosed promptly. So population screening and prenatal diagnosis are very important measures. Maternal age as a risk factor was used for congenital malformation screening. Some of prenatal diagnostic techniques, such as maternal serum screening, involve use of unique fetal markers. Maternal serum AFP, uE3, hCG are now used in many areas for risk assessments of pregnant women, which is otherwise called triple screening. Detecting fetal cells from maternal blood, non invasive prenatal diagnosis, and gene detecting technique are also used for a population screening program.
作者 王滨有
出处 《疾病控制杂志》 CAS 2000年第1期14-16,共3页 Chinese Journal of Disease Control and Prevention
关键词 先天性疾病 高危人群 筛选 产前诊断 congenital malformation high risk population screening non invasive prenatal diagnosis gene detect
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