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【资讯翻译】Analysis of cell-free DNA in maternal blood in screening fo...

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发表于 2015-4-1 16:00:28 | 显示全部楼层 |阅读模式
Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis

OBJECTIVE:
To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies.

METHODS:
Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015.

RESULTS:
In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5-99.6%) and 0.09% (95% CI, 0.05-0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3-97.9%) and 0.13% (95% CI, 0.07-0.20) for trisomy 18, 91.0% (95% CI, 85.0-95.6%) and 0.13% (95% CI, 0.05-0.26%) for trisomy 13, 90.3% (95% CI, 85.7-94.2%) and 0.23% (95% CI, 0.14-0.34%) for monosomy X and 93.0% (95% CI, 85.8-97.8%) and 0.14% (95% CI, 0.06-0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6-99.2%) and the FPR was 0.23% (95% CI, 0.00-0.92%).

CONCLUSION:
Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

信源地址:http://www.ncbi.nlm.nih.gov/pubmed/25639627

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发表于 2015-4-2 10:38:40 | 显示全部楼层
要了。。。。。。。。。

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发表于 2015-4-3 17:09:44 | 显示全部楼层
                                             Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
                                                         孕妇外周血游离DNA分析用于筛选胎儿非整倍性:一项最新的荟萃分析(Meta-分析)
        目的:回顾孕妇外周血游离DNA(cfDNA)分析的临床验证和实施研究,定义其在筛选胎儿21号,18号和13号及性让染色体非整倍性中的表现。
        方法:在PubMed, EMBASE and The Cochrane Library等数据库中搜索2011年1月(第一篇文献的发表时间)至2015年1月4日期间,专家评审的有关游离DNA测试用于筛选非整倍性的文章。
        结果:总计筛选出37份相关研究报告,并对cfDNA分析在筛选非整倍性的表现进行meta分析。这些研究报道了与损伤性测试或临床预期的胎儿核型相关的cfDNA结果。单胎妊娠21-三体综合征(唐氏综合征)的加权汇总检出率(DR)和假阳性率(FPR)分别为99.2%(95% CI, 98.5-99.6%)和0.09% (95% CI, 0.05-0.14%);18-三体综合征(爱德华氏综合征)的DR和FPR分别为96.3% (95% CI, 94.3-97.9%)和0.13% (95% CI, 0.07-0.20);13-三体综合征(巴陶氏综合征)的DR和FPR分别为91.0% (95% CI, 85.0-95.6%)和0.13% (95% CI, 0.05-0.26%);性染色体X单体型(Turner综合征)的DR和FPR分别为90.3% (95% CI, 85.7-94.2%)和0.23% (95% CI, 0.14-0.34%);非性染色体X单体型的性染色体非整倍型的DR和FPR分别为90.3% (95% CI, 85.7-94.2%)和0.23% (95% CI, 0.14-0.34%)。双胞胎妊娠中X染色体单体型为0.14% (95% CI, 0.06-0.24%) ;21-三体综合征的DR为93.7% (95% CI, 83.6-99.2%),FPR为0.23% (95% CI, 0.00-0.92%)。
        结论:孕妇外周血游离DNA分析筛选21-三体综合征要优于其他传统的筛选方法,具有高检出率和低假阳性率的特点。这种方法在筛选18-三体综合征,13-三体综合征和性染色体非整倍性中的表现要比在21-三体综合征中的表现差。(pxb译)

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 楼主| 发表于 2015-4-3 18:00:26 | 显示全部楼层
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