孕中期颈项皱褶厚度联合血清标志物在产前筛查中的应用  

Application of nuchal fold thickness measurement in middle pregnancy combined with serum markers in prenatal screening

作　　者：杨延冬[1] 王莉[1] 姜秀清[1] 崔广和[1] 韩兆东[1] 蔺香云[1] 

机构地区：[1]滨州医学院附属医院妇产科,山东滨州256603

出　　处：《中国妇幼保健》2010年第23期3341-3343,共3页Maternal and Child Health Care of China

基　　金：山东省人口和计划生育委员会科技项目〔(2008)08〕

摘　　要：目的：通过孕中期彩超及母体血清生化标志物的联合筛查,提高对唐氏综合征（Down’s syndrome,DS）患儿的筛查率。方法：对孕中期（15-20周）孕妇应用彩色超声测量胎儿颈项皱褶厚度（nuchal fold thickness,NF）,抽取孕妇空腹静脉血,应用时间分辨免疫荧光技术及配套的统计软件检测hAFP、游离β-绒毛膜促性腺激素（F-βHCG）,结合孕妇的年龄、产次、孕产史、妊娠方式、孕期用药、糖尿病等病史,综合分析胎儿罹患21-三体综合征的风险。NF≥5 mm和/或血清筛查大于1/270为筛查高危,对结果为高危的孕妇进行遗传咨询,在知情同意情况下行羊膜腔穿刺羊水细胞培养,得出胎儿是否患唐氏综合征,随访追踪每例筛查孕妇直至胎儿出生。结果：筛查2 786例孕妇,彩超检出NF高危56例,母血清检测DS高危172例,发现21-三体综合征3例,18-三体综合征1例,另外9例为染色体正常的出生缺陷。结论：孕中期彩超测定NF及母体血清hAFP和F-βHCG的联合应用筛查胎儿先天缺陷有效可行,经产前诊断及时采取措施,降低了缺陷儿的出生。Objective：To improve the screening rate of Down＇s syndrome（DS） by united screening of color ultrasonic examination and maternal serum biochemical markers in middle pregnancy.Methods：The women of middle pregnancy（15~20 gestational weeks） were examined by color ultrasound for fetal nuchal fold thickness,the fasting venous blood of pregnant women were taken,the levels of human alpha-fetoprotein（hAFP） and free β-human chorionic gonadotropin（F-βHCG） were detected by time-resolved fluoroimmunoassay and matching software;the risk of fetuses to trisomy 21 was analyzed synthetically after concerning maternal age,parity,histories of pregnancy and delivery,pregnancy modes,drug usage during pregnancy,history of diabetes mellitus;the pregnant women with NF5 mm and/or serum screening more than 1/270 were high risk population,the pregnant women with high risk results underwent genetic counseling,amniocentesis and amniotic cell culture were conducted when informed consent was obtained,then diagnosis of DS was made,every pregnant woman was followed up till birth of the fetus.Results：2 786 pregnant women accepted antenatal screening,56 pregnant women were screened out with high risk of nuchal fold thickness by color ultrasound,172 pregnant women were screened out with high risk of DS by maternal serum markers analysis,3 fetuses with trisomy 21 and one fetus with trisomy 18 were found,9 fetuses with normal chromosome were detected with birth defects.Conclusion：Joint application of fetal nuchal fold thickness measurement by color ultrasonic examination and detection of maternal serum markers（hAFP and F-βHCG） is effective and feasible in screening of fetal congenital defects,antenatal diagnosis and taking measures timely may reduce the birth of fetuses with birth defects.

关 键 词：唐氏综合征 NF hAFP F-βHCG 产前筛查 

分 类 号：R715.3[医药卫生—妇产科学]