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母血胎儿游离DNA用于无创产前诊断染色体异常疾病准确性的系统评价 被引量：4

Accuracy of maternal serum free fetal DNA for prenatal diagnosis of chromosomal abnormalities:a systematic review
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摘要 目的:评价母血胎儿游离DNA无创产前诊断染色体异常方法的准确性。方法:对Medline数据库进行文献检索,关键词为全文检索"prenatal"和"aneuploidy"和"noninvasive"或"non-invasive"和"maternal",对检索的文章用QUADAS工具筛选,对符合标准的文章进行全文分析。结果:4篇研究文章符合QUADAS所设定的标准,21-三体综合征无创产前诊断4 167例,灵敏度为100.00%,特异性为99.30%;18-三体综合征无创产前诊断共3 455例灵敏度为97.40%,特异性为99.95%。结论:母血胎儿游离DNA无创产前诊断染色体异常方法具有高精确性。 Objective：To evaluate the accuracy of maternal serum free fetal DNA used for noninvasive prenatal diagnosis of chromoso- mal abnormalities. Methods ：Medline database was searched with keywords of ＇prenatal＇ and ＇aneuploidy＇ and ＇noninvasive＇ or ＇non-invasive＇ and ＇maternal＇ by QUADAS tool,then the eligible full-texts were analyzed. Results：Four articles complied with the QUADAS standards. Noninvasive prenatal diagnosis was performed on 4 167 trisomy-21 syndrome cases,with sensitivity of 100.00% and specificity of 99.30% ;non-invasive prenatal diagnosis was performed on 3 455 trisomy-18 syndrome cases,with sensitivity of 97.40% and specificity of 99.95%. Conclusion ： Maternal serum fetal free DNA used for noninvasive prenatal diagnosis of chromosomal abnormalities is of high accuracy
作者 何小玲 徐红兵
机构地区 重庆医科大学附属第一医院妇产科
出处 《重庆医科大学学报》 CAS CSCD 北大核心 2013年第10期1130-1132,共3页 Journal of Chongqing Medical University
基金 国家临床重点专科建设经费资助项目(编号:201101ckZD)
关键词 无创 产前诊断 染色体异常 noninvasive prenatal diagnosis chromosomal abnormalities
分类号 R714.7 [医药卫生—妇产科学]
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二级参考文献19

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共引文献41

同被引文献29

  • 1肖红梅,谭跃球,李麓芸,卢光琇.应用荧光原位杂交产前诊断未培养羊水细胞非整倍体[J].中华医学遗传学杂志,2004,21(6):608-610. 被引量：13
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引证文献4

二级引证文献9

重庆医科大学学报
2013年 第10期

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