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优先【文献翻译】Cell-Free DNA Analysis of Targeted Genomic Regions in...

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发表于 2016-6-2 15:09:16 | 显示全部楼层 |阅读模式
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

BACKGROUND: There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT).

METHODS: We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest. An advanced fetal fraction estimation and aneuploidy determination algorithm was also developed. This assay allowed for accurate counting and assessment of chromosomal regions of interest. The analytical performance of the assay was evaluated in a blind study of 631 samples derived from pregnancies of at least 10 weeks of gestation that had also undergone invasive testing.

RESULTS: Our blind study exhibited 100% diagnostic sensitivity and specificity and correctly classified 52/52 (95% CI, 93.2%–100%) cases of trisomy 21, 16/16 (95% CI, 79.4%–100%) cases of trisomy 18, 5/5 (95% CI, 47.8%–100%) cases of trisomy 13, and 538/538 (95% CI, 99.3%–100%) normal cases. The test also correctly identified fetal sex in all cases (95% CI, 99.4%–100%). One sample failed prespecified assay quality control criteria, and 19 samples were nonreportable because of low fetal fraction.

CONCLUSIONS: The extent to which free fetal DNA testing can be applied as a universal screening tool for trisomy 21, 18, and 13 depends mainly on assay accuracy and cost. Cell-free DNA analysis of targeted genomic regions in maternal plasma enables accurate and cost-effective noninvasive fetal aneuploidy detection, which is critical for widespread adoption of NIPT.

链接:http://www.clinchem.org/content/62/6/848.abstract

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发表于 2016-6-3 10:13:52 | 显示全部楼层
领了。。。

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发表于 2016-6-3 12:37:34 | 显示全部楼层
母体血浆定向基因组区域游离DNA分析在21三体,18三体,13三体综合征和胎儿性别的无创产前检查中的应用

       背景:急切地需要发展高精确性和成本效益的技术,为广泛采用无创产前测试(NIPT)带来便利。
       方法:我们开发了基于游离DNA定向分析的方法,用于胎儿21号、18号和 13号染色体非整倍体的检测。此方法可以捕获和分析感兴趣的和选定的基因组区域。同时也开发了一种先进的胎儿分数估计和非整倍体率确定的算法。该测试方法满足对感兴趣的染色体区域的准确计算和评估。利用一个来自631例妊娠10周以上且进行过创伤性检查的孕妇样本的盲研究对该分析方法的性能进行了评价。
       结果:盲研究表现出100%的诊断敏感性和特异性;并对21三体(52 / 52,95% CI,93.2%–100%)、18三体(16 / 16,95% CI,79.4%–100%),13三体(5/5,95% CI,47.8%–100%)和正常病例(538 538,95% CI,99.3%–100%)进行了正确分类。该试验还在所有情况下正确识别了胎儿性别(95% CI,99.4% - 100%)。1个样本未通过预先测定的质量控制标准,19个样品由于胎儿分数低不具备报告性。
       结论:胎儿游离DNA检测作为21三体、18三体和13三体的通用筛查工具的程度,主要取决于测定方法的准确性和成本。孕妇血浆中定向基因组游离DNA分析可以实现无创胎儿非整倍体的准确测定和高成本效益,而这也是以后广泛采用NIPT的关键。

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 楼主| 发表于 2016-6-3 16:30:18 | 显示全部楼层
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