浙江医学2018，Vol.40Issue(1)：12-15,4.DOI:10.12056/j.issn.1006-2785.2017.40.1.2017-1467
大规模平行测序无创基因检测用于胎儿染色体非整倍体异常产前诊断的临床价值
Massively parallel sequencing in non-invasive prenatal screening for chromosome aneuploidy
摘要
Abstract
Objective To assess the clinical value of massively parallel sequencing in diagnosis of fetal chromosomal aneuploidy.Methods Nine hundred and fourteen high-risk pregnant women registered in prenatal diagnostic centers of Hangzhou First People's Hospital were enrolled in the study.The plasma DNA was extracted and sequenced with high-throughput sequencing procedure.The results were compared with the human reference gene-database and statistically analyzed.Simultaneously,the cells isolated from the fetal amniotic fluid were cultured,and chromosomal karyotyping was performed to identify the chromosome aneuploidy.Results Among 914 pregnant women,8 cases of trisomy 21,3 cases of trisomy 18,1 case of trisomy 13 were detected by massively parallel sequencing,which were in full accord with the results of chromosomal karyotype analysis.In addition 3 cases of 45,X,2 cases of 47,XXX and 2 cases of 47,XXY were detected by massively parallel sequencing technology;with chromosomal karyotype analysis as gold standard the positive predictive value of non-invasive prenatal testing was 66.7％ for 45,X,50％ for 47,XXX and 47,XXY,while the false positive rate was 0.11％ for 45X,0.22％ for 47,XXX and 47,XXY.Conclusion Massively parallel sequencing technology is of high positive predictive value for detecting trisomy 21,18,13 and of low positive predictive value for detecting sex chromosome aneuploidies in prenatal diagnosis of the fetus chromosome aneuploidy,indicating that it may be used as an advanced screening test not as diagnostic method.关键词
染色体非整倍体异常/大规模平行测序技术/无创产前检测/无创产前诊断Key words
Chromosome aneuploid abnormality/Massively parallel sequencing technology/Non-invasive prenatal testing/Non-invasive prenatal diagnosis引用本文复制引用
王海,周蕾,王克义,怀磊..大规模平行测序无创基因检测用于胎儿染色体非整倍体异常产前诊断的临床价值[J].浙江医学,2018,40(1):12-15,4.基金项目
浙江省人口计划生育科研项目(2014KYA237) （2014KYA237）
浙江省科技厅公益技术应用研究项目(2017C37150) （2017C37150）
杭州市社会发展科研自主申报项目(20160533B13) （20160533B13）
