孕妇血清标记物在出生缺陷干预措施中的应用  

Clinical application of biochemical markers in antenatal screening for birth defect intervention

作　　者：肖鸽飞[1] 孟小军[1] 梁雄[1] 崔娓[1] 朱峰[1] 吴洪秋[1] 朱兰芳[1] 

机构地区：[1]珠海市妇幼保健院,广东珠海519001

出　　处：《中国优生与遗传杂志》2009年第7期88-90,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕妇血清标记物应用在孕早、中期进行产前唐氏筛查中控制出生缺陷的意义。方法用时间分辨荧光免疫法测定孕妇早、中期个体血清中的妊娠相关血浆蛋白A(PAPP-A)、甲胎蛋白(AFP)、游离人类绒毛膜促性腺激素β亚单位(FhCGβ)及游离雌三醇(uE3)水平,再采用随机配套的Wallac1T、2T专用风险分析软件进行数据计算分析。结果通过对珠海市妇幼保健院常规产检的10604名孕早、中期的孕妇进行产前筛查,在高风险人群中检出DS儿10例、18三体综合征2例、神经管缺陷5例。结论合理利用多种孕妇血清标记物在孕早、中期进行产前筛查,对提高DS筛查的检出率、降低假阳性率、减少创伤性的产前诊断都有着积极意义,从而在对出生缺陷进行有效干预方面具有重要的实用价值。Objective ： To explore the practical values of prenatal screening for birth defect relies on multiple biochemical markers. Methods： Pregnancy- associated plasma protein A （PAPP- A）, alpha- fetoprotein （AFP）, free beta- human chorionic gonadotropin （F hCGβ） and unconjugated estriol （uE3 ） levels in serum samples of first or second -trimester were measured by the time -resolved fluoroimmunoassay （TRFIA）. The risk rate of Down＇s syndrome （DS） was calculated by the Wallac Risks 1T or 2T software. Results ： From January 2005 to November 2007, 10 604 pregnant women were screened and traced. Of the cases studied, 10 cases of DS, 2 cases of Edwards syndrome （ES） and 5 cases of neura tube defect （NTD） were detected out from the high risk women. Conclusion： It is feasible to apply the combined tests suitably can improve the detective rate （DR） of DS, reduce the false positive rate （FPR） and avoid wound prenatal diagnosis. And the biochemical markers were combined in the antenatal screening has the practical value to reduce the birth rate of birth defects.

关 键 词：生化标记物 产前筛查 出生缺陷 

分 类 号：R714.55[医药卫生—妇产科学]