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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 evaluate the efficiency of detecting abnormal chromosome fetuses in high-throughput sequencing (HTS) and conventional second trimester screening. Methods: Fetal aneuploidy screening was performed by routine prenatal screening in pregnant women with gestational blood free DNA (HTS), maternal plasma alpha-fetoprotein (AFP) and free beta-h CG combined with ultrasound. Fetal amniotic fluid / cord blood puncture karyotype analysis, comparative analysis of two methods to detect fetal chromosomal abnormalities efficiency. Results: A total of 4 614 high-risk antenatal screening patients were diagnosed. Among them, 131 (2.84%) were diagnosed as fetal chromosomal abnormalities, including 88 cases of an autosomal abnormality, 17 cases of abnormal sex chromosome number, 18 cases of abnormal balance structure and unbalanced structure abnormalities 7 cases, triploid in 1 case. There were 55 cases of high risk HTS screening, 33 cases (60%) diagnosed fetal chromosomal abnormalities, including 26 cases of an autosomal abnormality, 4 cases of abnormal sex chromosome number, 1 case of balanced structure abnormalities and 2 cases of unbalanced structure abnormalities. There were significant differences in fetal chromosomal abnormalities detected by the two screening methods in high risk cases (P <0.01), but there was no significant difference in chromosomal abnormalities detected by the two methods (P> 0.05). Conclusion: Compared with routine prenatal screening, HTS prenatal screening of high-risk cases of fetal chromosomal abnormalities rate can be increased several times as much, can significantly reduce the number of cases of amniotic fluid puncture caused by false positives, significantly increased prenatal Fetal chromosomal abnormalities in screening efficiency.