高通量测序和常规孕中期产前筛查的效率分析  

Efficiency of high-throughput sequencing and standard prenatal screening for mid-term pregnancy

作　　者：孙博[1,2] 王雪方[2] 徐向荣[1] 梅瑾[2] 金帆[1] 

机构地区：[1]浙江大学医学院附属妇产科医院,杭州310006 [2]杭州市第一人民医院,杭州310006

出　　处：《生殖与避孕》2015年第11期772-775,共4页Reproduction and Contraception

摘　　要：目的:评估高通量测序(HTS)和常规孕中期产前筛查检出异常染色体胎儿的效率。方法:分别应用孕妇血游离DNA行HTS和母血甲胎蛋白(AFP)、游离β-h CG结合超声、高龄孕妇常规的孕中期产前筛查方法进行胎儿非整倍体筛查,高风险者行羊水/脐血穿刺进行胎儿染色体核型分析,比较分析2种方法检出胎儿染色体异常效率。结果:常规产前筛查高风险者4 614例,诊断胎儿染色体异常131例(2.84%),其中常染色体数目异常88例,性染色体数目异常17例,平衡结构异常18例,不平衡结构异常7例,三倍体1例。HTS筛查高风险者55例,诊断胎儿染色体异常33例(60%),其中常染色体数目异常26例,性染色体数目异常4例,平衡结构异常1例,不平衡结构异常2例。2种筛查方法检出高风险病例的胎儿染色体异常率差异有显著统计学意义(P<0.01),但2种方法检出染色体异常类型构成无统计学差异(P>0.05)。结论:与常规产前筛查相比,HTS产前筛查的高风险病例胎儿染色体异常率可升高数十倍之多,可显著降低因假阳性导致的羊水穿刺病例数,明显提高产前胎儿染色体异常病例的筛查效率。Objective： To analyze the efficiency of the high-throughput sequencing （HTS） and standard prenatal screening on fetuses＇ chromosome abnormalities. Methods Standard prenatal screening was based on a combination of maternal age, maternal serum biomarkers and fetal ultrasonographic findings. HTS was based on analysis of cell-DNA （cfDNA） in maternal plasma. The cases who had a high risk of aneuploidy were detected by the karyotype analysis to compare the efficiency of two prenatal screening methods. Results： Totally 131 cases with fetal chromosomal abnormalities were detected from 4 614 cases with a high risk of aneuploidy by standard prenatal screening, including 88 cases with euchromosome number abnormalities, 17 cases with sex chromosome number abnormalities, 18 cases with balanced chromosome structural abnormalities, 7 cases with unbalanced chromosome structural abnormalities, 1 case with triploid. Thirty-three （60%） cases with fetal chromosomal abnormalities were detected in 55 cases with a high risk of aneuploidy by HTS, including 26 cases with euchromosome number abnormalities, 4 cases with sex chromosome number abnormalities, 1 ease with balanced chromosome structural abnormalities, 2 cases with unbalanced chromosome structural abnormalities. The ratio difference of detected chromosome abnormality cases to high-risk cases which were screened by two methods had a statistical significance, but the ratio differences of various type cases of chromosome abnormality to all cases of chromosome abnormality had no statistical significance. Twenty-six results of fetal chromosomal abnormalities used both methods, including 21 cases of screening results were of high risk. Conclusion： Compared with standard prenatal screening, HTS is more effective. The screening rate of fetal chromosomal abnormalities can be increased several times. HTS will reduce the amniocentesis cases caused by false positives and improve the efficiency of prenatal screening for fetal chromosomal abnormality cases.

关 键 词：常规产前筛查 高通量测序(HTS) 筛查效率 

分 类 号：R714.5[医药卫生—妇产科学]