欢迎来到艾兰博曼,请 登录 | 立即注册
查看: 1363|回复: 3

【资讯翻译】Cell-free DNA screening for fetal aneuploidy as a clinical ...

[复制链接]

10

听众

10

收听

1954

积分

管理员

Rank: 9Rank: 9Rank: 9

积分
1954
发表于 2015-4-1 15:58:32 | 显示全部楼层 |阅读模式
Cell-free DNA screening for fetal aneuploidy as a clinical service

Non-invasive prenatal testing (NIPT) through the analysis of cell free (cf)DNA is revolutionizing prenatal screening for fetal aneuploidy. Current methods used in clinical practice include shotgun massively parallel sequencing (s-MPS); targeted (t-MPS); and an approach that takes advantage of single nucleotide polymorphism (SNP) differences between mother and fetus. Efficacy of cfDNA testing for the common autosomal trisomies far exceeds that of conventional screening. Depending on the methodology used, reasons for discordancy between cfDNA results and fetal karyotype can include true fetal mosaicism, confined placental mosaicism, presence of a maternal karyotype abnormality, insufficient counting due to low fetal fraction, and a vanishing twin. Among the possible cfDNA strategies a Primary test has the highest performance but is expensive, while a Contingent cfDNA test can achieve high performance at a relatively low cost. Practicalities to be considered in the provision of testing include pretest counseling about the scope and accuracy of the testing, the interpretation of results when there is a low fetal fraction and follow-up studies for positive test results. The role of first trimester nuchal translucency measurement and conventional biochemical testing needs to be reassessed in the context of the use of cfDNA.


信源地址:http://www.ncbi.nlm.nih.gov/pubmed/25732593



0

听众

0

收听

387

积分

中级会员

Rank: 3Rank: 3

积分
387
发表于 2015-4-3 17:11:51 | 显示全部楼层
领了。。。。。。。。。。。。。。。。

0

听众

0

收听

387

积分

中级会员

Rank: 3Rank: 3

积分
387
发表于 2015-4-3 23:46:11 | 显示全部楼层
                                                                          将游离DNA筛选胎儿非整倍性纳入临床服务
    通过游离DNA分析进行无创产前检查(NIPT)是一项具有变革意义的胎儿非整倍型产前筛选方法。目前临床实践中的方法包括鸟枪法大范围并行测序法(s-MPS);靶向大范围并行测序法(t-MPS);一种利用母体和胎儿单核苷酸多态性(SNP)不同的流程。cfDNA检查对于常见的常染色体三体性的有效性要远远超过传统的筛选方法。根据所使用的方法,cfDNA检测结果和胎儿核型的不一致的原因包括真正的胎儿嵌合体,胎盘特异性嵌合体,母体核型异常,胎儿片段过少导致的计数不足和胎儿的自然减灭。在可行的cfDNA策略中,预初试验具有最好的表现,但是费用昂贵;此外还有一种能够获得较好表现的成本相对较小方法。测试条款中需要考虑的实例包括测试范围和准确率的检测前咨询;对低胎儿片段结果的解析,以及阳性结果的跟踪研究。在使用cfDNA的情况下,妊娠胎儿颈项透明层厚度测量和传统的生化检查的作用需要重新评估。(pxb译)

10

听众

10

收听

1954

积分

管理员

Rank: 9Rank: 9Rank: 9

积分
1954
 楼主| 发表于 2015-4-7 13:51:40 | 显示全部楼层
收了
您需要登录后才可以回帖 登录 | 立即注册

本版积分规则

© 2013 艾兰博曼 All Rights Reserved.
( 浙ICP备07020270号-8 )
 
快速回复 返回顶部 返回列表