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

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。

Abstract:

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