高通量测序和常规孕中期产前筛查的效率分析

发布时间：2018-05-01 04:43

本文选题：常规产前筛查 + 高通量测序(HTS)　；参考：《生殖与避孕》2015年11期

【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(P0.01),但2种方法检出染色体异常类型构成无统计学差异(P0.05)。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。
[Abstract]:Objective: to evaluate the efficiency of high throughput sequencing (HTS) and routine prenatal screening for abnormal chromosomal fetuses. Methods: fetal aneuploidy screening was performed by free DNA in pregnant women, HTS in maternal blood, free 尾 -hCG combined with ultrasound, and prenatal screening in the second trimester of elderly pregnant women. Fetal chromosomal karyotype was analyzed by amniotic fluid / umbilical cord blood puncture in high risk patients. Results: there were 4614 cases with high risk of routine prenatal screening, 131 cases of fetal chromosomal abnormalities were diagnosed, including 88 cases of abnormal number of autosomes, 17 cases of abnormal number of sex chromosomes, 18 cases of abnormal balance structures and 7 cases of abnormal unbalanced structures. Among the 55 cases with high risk of triploid screening, 33 cases were diagnosed with fetal chromosomal abnormalities, including 26 cases with autosomal abnormalities, 4 cases with abnormal sex chromosomes, and 1 case with abnormal balance structure. There were significant differences in fetal chromosomal abnormalities in 2 cases with abnormal structure in 2 cases with high risk cases (P 0.01), but there was no significant difference between the two methods in the types of chromosomal abnormalities (P 0.05). Conclusion: compared with conventional prenatal screening, the abnormal rate of fetal chromosomes in high-risk cases with HTS prenatal screening can be increased by tens of times, and the number of amniocentesis cases caused by false positives can be significantly reduced. The screening efficiency of prenatal fetal chromosomal abnormalities was significantly improved.
【作者单位】：浙江大学医学院附属妇产科医院;杭州市第一人民医院;
【分类号】：R714.5

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