无创产前检测和血清生化筛查在染色体异常产前筛查中比较  

Two methods used in the prenatal chromosomal abnormality screening:NIPT and serum biochemical screening

作　　者：郭辉[1] 林琳华[1] 任景慧[1] 李启运[1] 林秀华[1] 姚秋璇[1] 王莹[1] 

机构地区：[1]深圳市人民医院,广东深圳518020

出　　处：《中国优生与遗传杂志》2017年第2期29-31,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省科技计划项目(2013B022000018)

摘　　要：目的对无创产前检测(non-invasive prenatal testing,NIPT)和血清生化筛查两种方法在染色体异常的产前筛查中的应用结果进行分析比较。方法收集单胎孕妇志愿者外周血样本666例,在血浆中提取游离DNA进行NIPT,判断胎儿染色体的非整倍体变化。同时收集血清学样本,采用时间分辨荧光分析法进行血清生化筛查。进入研究的孕妇均进行了羊水或脐带血的染色体核型分析,与筛查结果进行比对分析。结果 666例样本中,染色体核型分析数目异常31例。NIPT检出染色体数目异常高风险26例,其中21-三体高风险18例,检出率100%(17/17),误诊1例;18-三体高风险7例,检出率87.5%(7/8),漏诊1例;13-三体高风险1例,检出率100%。血清学筛查21-三体高危风险93例,检出率58.8%(10/17),误诊83例,漏诊7例;18-三体高危风险9例,检出率50%(4/8),误诊5例,漏诊4例;13三体高危风险2例检出率100%(1/1),误诊1例。同时检出1例47,XXY,1例47,XYY和1例45,X0,总检出率58.1%(18/31)。同时考虑血清筛查的单项生化指标异常,染色体数目异常的总检出率为80.6%(25/31)。三种筛查方法的Youden指数分别为0.804(NIPT)、0.448(血清学筛查)和0.623(血清血筛查含单项异常)。结论针对染色体数目异常的检出,NIPT的敏感性和特异性均高于血清生化筛查,目前对的21-三体和18-三体检出技术比较成熟,其他(如性染色体)异常的检测还存在误诊和漏诊。血清生化筛查染色体异常方法的检测成本较低,对21-三体和18-三体以外的染色体数目异常也有筛查意义。如果同时单项指标的异常,可以提高检出灵敏度,但会伴随特异性增高。Objective：To invstigate the efficiency of two methods used in the prenatal chromosomal abnormality screening：non-invasive prenatal testing（NIPT）and serum biochemical screening. Methods：Free DNA in plasma was extacted from peripheral blood samples of 666 voluntary pregrant women with single pregnancy. Plasma DNA was analyzed by NIPT. Fetal chromosomal aeuploidy was decided according to the bioinformatics statistics results of sequencing data. Meanwhile maternal serum biomarkers of those women were screened using the time-resolved fluoroimmunoassay. All the volunteers were diagnosed by amniocentesis or cordocentesis for chromosome karyotype analysis. Results：Among 666 samples,NIPT detected 26 chromosome aneuploidies,including 18 cases high risk of 21-trisomy（1 false positive cases）,7 cases of 18-trisomy（1 false negative case）,and 1case of 13-trisomy high risk. In serum screening,93 cases of 21-trisomy high risk with 58.8% of detection rate（10/17）;9 cases of 18-trisomy high risk with detection rate 50%（4/8）;2 cases of 13-trisomy high risk with 100% detection rate（1/1）. One 47,XXY,one 47,XYY,one 45,X0 were detected at the same time. When considering the risk of age and single bio-marker level,detection rate of aneuploidies raised to 80.6%（25/31）. Youden Indexes of three methods are 0.804,0.448 and 0.623. Conclusion：To the detection of 21 and 18 trisomy,NIPT has much higher sensitivity and specificity than serum screening method. Serum screening has lower cost and detection value to other aneuploidies. Risk of age and single bio-marker′s level can raise the detection rate,but accompanied with the high false positive rate.

关 键 词：产前筛查 无创产前检测 染色体异常 

分 类 号：R714.53[医药卫生—妇产科学]