大规模平行基因组测序技术应用于胎儿常见染色体非整倍体异常无创产前诊断中的价值  

Value of massively parallel genomic sequencing in non-invasive prenatal diagnosis of fetal common chromosomal aneuploidy

作　　者：薛海鲸 李宝[1] 郑芸芸 刘阳[1] 赵秋剑[1] 张建芳 XUE Hai-jing;LI Bao;ZHENG Yun-yun;LIU Yang;ZHAO Qiu-jian;ZHANG Jian-fang(Baoji Central Hospital, Baoji 721008;Xijing Hospital, Air Force Military Medical University, Xi'an 710032, China)

机构地区：[1]宝鸡市中心医院,陕西宝鸡721008 [2]空军军医大学西京医院,陕西西安710032

出　　处：《临床医学研究与实践》2019年第29期1-2,共2页Clinical Research and Practice

基　　金：国家“十三五”重点研发计划项目（No.2016YFC1000703）

摘　　要：目的探讨大规模平行基因组测序技术应用于胎儿常见染色体非整倍体异常无创产前诊断中的价值。方法选取2015年6月至2018年7月于本院进行产前检查的77例单胎孕妇作为研究对象,所有孕妇均采用大规模平行基因组测序技术进行胎儿染色体异常筛查诊断,以介入性产前诊断结果为金标准,分析大规模平行基因组测序技术的应用价值。结果大规模平行测序技术诊断的准确率、灵敏度、特异度及对胎儿染色体异常分型的诊断准确率与介入性产前诊断比较无显著差异(P<0.05)。结论大规模平行基因组测序技术应用于胎儿染色体异常筛查诊断中的灵敏度和特异度较高,对染色体异常分型的诊断准确率高,可作为孕妇产前无创筛查的首选方法,具有推广应用价值。Objective To explore the value of massively parallel genomic sequencing in non-invasive prenatal diagnosis of fetal common chromosomal aneuploidy. Methods A total of 77 single-fetal pregnant women had prenatal examination in our hospital from June 2015 to July 2018 were selected as study objects. All pregnant women were screened for fetal chromosomal aneuploidy by massively parallel genomic sequencing. The application value of massively parallel genomic sequencing was analyzed based on the results of interventional prenatal diagnosis as gold standard. Results There were no significant differences in diagnostic accuracy, sensitivity, specificity and diagnostic accuracy of fetal chromosomal abnormality typing between massively parallel genomic sequencing and interventional prenatal diagnosis (P>0.05). Conclusion Massively parallel genomic sequencing has high sensitivity and specificity in screening and diagnosis of fetal chromosomal aneuploidy, and high diagnostic accuracy of fetal chromosomal abnormality typing. It can be used as the first choice of non-invasive prenatal screening for pregnant women, and has the value of popularization and application.

关 键 词：染色体非整倍体异常 无创诊断 大规模平行基因组测序技术 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]