引用本文:何小玲,徐红兵.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[J].重庆医科大学学报,2013,(10):1130~1132
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
Accuracy of maternal serum free fetal DNA for prenatal diagnosis of chromosomal abnormalities:a systematic review
DOI:
中文关键词:  无创  产前诊断  染色体异常
英文关键词:noninvasive  prenatal diagnosis  chromosomal abnormalities
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何小玲,徐红兵 重庆医科大学附属第一医院妇产科重庆 400016 
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中文摘要:
      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。
英文摘要:
      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
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