无创基因检测(NIPT)对胎儿染色体异常筛查的临床应用  

Application of Noninvasive Prenatal Testing in the Screening of Chromosome Abnormality

作　　者：左娟 刘洁 朱瑾 江玲玲 黄建成 李朝晖 Juan;LIU Jie;ZHU Jin;JIANG Ling ling;HUANG Jian cheng;LI Zhao hui(Department of Laboratory Medicine,Mindong Hospital Affiliated to Fujian Medical University,Fujian Ningde 355000,China)

机构地区：[1]福建医科大学附属闽东医院检验科,福建宁德355000

出　　处：《现代检验医学杂志》2018年第5期15-18,共4页Journal of Modern Laboratory Medicine

基　　金：福建省青年科研课题(2014-1-97)

摘　　要：目的探讨无创产前基因检测(NIPT)在预测胎儿染色体异常中的临床应用价值。方法选取2016年4月～2018年4月在福建省宁德市闽东医院行NIPT的单活胎孕妇6 357例,按孕周分为早、中、晚孕期组,按孕龄分为高、低龄组,低龄组又按申请理由分唐氏筛查高风险组、临界风险组、单项指标或中位数倍数(MOM值)异常组,B超软指标异常组和直接选择NIPT组,对于结果异常者签署知情同意书行羊膜腔穿刺术。结果 (1)6 357例孕妇共检出染色体异常76例,早、中、晚孕期组阳性率分别为2.17%,1.23%和0.70%,三者之间差异无统计学意义(χ~2=2.265～6.052,均P>0.05);(2)6 357例孕妇按孕龄和申请理由分组,各组阳性率分别为1.45%,1.07%,0.97%,0.60%,1.29%和1.15%,各组之间差异无统计学意义(χ~2=0.017～1.809,均P>0.05);(3)76例NIPT结果异常孕妇有64例接受了羊膜腔穿刺羊水细胞染色体检查,其中21,18和13-三体的诊断率分别为90%,100%和100%,符合率分别为88.9%,88.9%和50%;性染色体的诊断率为83.9%,符合率61.5%;其它染色体异常诊断率为58.3%,符合率为0。结论 (1)不同孕期NIPT的阳性率之间无差异,孕妇可以尽早行NIPT,为后续介入性诊断争取时间;(2)不同申请理由NIPT的阳性率之间无差异,高龄和错过唐筛时间的孕妇可将NIPT作为筛查胎儿染色体异常的首选,而唐筛高风险、临界风险、单项指标或MOM值异常的孕妇可将NIPT作为二线筛查,从而避免不必要的羊膜腔穿刺;(3)NIPT不仅对21和18-三体具有较高的特异度和敏感度,对13-三体、性染色体也有一定的预示作用,可作为产前检测胎儿染色体异常的辅助手段。Objective To explore the clinical application value of noninvasive prenatal testing（NIPT） in the screening of chromosome abnormality. Methods From April 2016 to April 2018,a total of 6 357 cases of single pregnant women undergoing NIPT in Mindong Hospital were selected. They were divided into early-pregnancy group, mid-pregnancy group and laterpregnancy group by gestational age. They also were divided into advanced maternal age group and non-advanced maternal age group. The non-advanced maternal age group was secondly divided into high risk group, critical risk group, single index or MOM anomaly group about Down＇ s syndrome screening, soft indexes anomaly group about ultrasonic diagnosis and preferred alternative group by reasons for application of NIPT. The pregnant women with high-risk NIPT results were suggested amniotic fluid puncture for karyotype analysis. Results ①76 pregnant women were found with high-risk NIPT results. The positive rate was 2.17% in early-pregnancy group, 1.23% in mid-pregnancy group and 0.70% in later-pregnancy group. They didn＇t have statistic significance （χ^2=2. 265%6. 052, P〉0.05）. ②A total of 6 537 cases were divided by age and reason for application of NIPT. The positive rate were 1.45 %, 0.97 %, 0.60 %, 1.29 % and 1.15 % respectively. They didn＇t have statistic significance （χ^2=0. 017-1. 809, P〉0.05）. ③Among 76 pregnant women with high-risk NIPT results, 64 cases underwent amniotic fluid puncture for karyotype analysis. The diagnosis rate of T21, T18 and T13 were 90 %,100 % and 100 % respectively. The positive predictive values of T21, T18 and T13 were 88.9 %, 88.9 % and 50 %, respectively. The diagnosis rate of sex chromosome abnormality was 83.9%, the coincidence rate was 61.5%, the diagnosis rate of other chromosome abnormality was 58.3%,the coincidence rate was 0o Conclusion ①The positive rates didn＇t have significant difference among different pregnancy duration, so pregnant woman after 12 weeks can do NIPT as early as possiblefor striving

关 键 词：无创产前基因检测 羊水 染色体 唐氏筛查 

分 类 号：R394-33[医药卫生—医学遗传学]