无创胎儿DNA检测在2949例传统唐氏筛查临界风险孕妇中的应用  

Non-invasive prenatal test in 2949 intermediate risk women after traditional Down syndrome screening

作　　者：涂新枝[1] 段纯[2] 李玉哲 杨晓敏[1] 谢建生[3] TU Xin-zhi;DUAN Chun;LI Yu-zhe;YANG Xiao-min;XIE Jian-sheng(Department of Obstetrics,Shenzhen Maternity &Child Healthcare Hospital Affiliated to South Medical University, Shenzhen 518028, China;Department of Clinical Laboratory,Shenzhen Maternity & Child Healthcare Hospital Affiliated to South Medical University, Shenzhen 518028, China;Department of Central Laboratory, Shenzhen Maternity & Child Healthcare Hospital Affiliated to South Medical University, Shenzhen 518028, China)

机构地区：[1]南方医科大学附属深圳市妇幼保健院产科,518028 [2]南方医科大学附属深圳市妇幼保健院检验科,518028 [3]南方医科大学附属深圳市妇幼保健院中心实验室,518028

出　　处：《天津医药》2017年第2期180-183,共4页Tianjin Medical Journal

基　　金：广东省医学科研基金(B2015059);深圳市科技研发资金知识创新计划基础研究项目(JCYJ20150402090412996)

摘　　要：目的探讨无创胎儿DNA检测(NIPT)在传统唐氏筛查临界风险孕妇中的应用价值。方法选择2015年3月1日—2016年3月31日因"传统唐氏筛查为临界风险"在深圳市妇幼保健院就诊,经知情同意自愿接受NIPT作为后续检查的2 949例孕妇为研究对象。回顾性分析孕期传统唐氏筛查、超声检查、NIPT结果和侵入性羊膜腔穿刺胎儿染色体核型分析结果,追踪随访其妊娠结局。结果 2 949例传统唐氏筛查为临界风险孕妇均100%获得NIPT检测结果,发现NIPT高风险25例;25例中24例接受侵入性羊膜腔穿刺行胎儿染色体核型分析,确诊胎儿染色体异常13例,其中21三体5例、13三体2例、性染色体异常4例、其他染色体异常2例;另有1例NIPT性染色体异常高风险者拒绝产前诊断,出生后随访新生儿未见异常。经随访,NIPT阴性孕妇中未发现染色体异常新生儿,临界风险孕妇中胎儿染色体异常发生率0.44%(13/2 949)。结论应用NIPT作为唐氏筛查临界风险孕妇的二线筛查将大大减少侵入性产前诊断的例数,明显提高胎儿染色体异常的检出率。Objective To explore the value of non-invasive prenatal test(NIPT)in pregnant women with intermediaterisk after traditional Down syndrome screening.Methods From March12015to March312016,a total of2949pregnantwomen with intermediate risk after traditional Down syndrome screening who received NIPT as the second-line screeningmethod at Shenzhen Maternity and Child Healthcare Hospital after informed consent were recruited for this study.Retrospective data analysis including the results of traditional Down syndrome screening,ultrasound,NIPT and invasiveamniocentesis to fetal karyotype analysis were conducted,and pregnant outcomes were followed up.Results NIPT resultswere all obtained in2949pregnant women with intermediate risk after traditional Down syndrome screening.Of25NIPTpositivecases,24cases received invasive amniocentesis to fetal karyotype analysis.Thirteen cases were confirmed with fetalchromosomal abnormalities including5cases of trisomy21,2cases of trisomy13,4cases of sex chromosomal abnormalitiesand2cases of other chromosomal abnormalities.In addition,1NIPT-positive case refused prenatal diagnosis was confirmednormal result after birth.The postnatal follow-up in NIPT-negative women did not find any newborn with chromosomalabnormality.The incidence of fetal chromosomal abnormalities in women with intermediate risk was0.44%(13/2949).Conclusion NIPT can be used as second-line screening method in pregnant women with intermediate risk after Downsyndrome screening,which could lead to the prenatal detection of a higher proportion of fetal chromosomal abnormalities anda lower invasive-testing rate.

关 键 词：唐氏综合征 产前诊断 胎儿监测 胎儿疾病 染色体畸变 临界风险 无创胎儿DNA检测 

分 类 号：R715.5[医药卫生—妇产科学]