Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

被引:695
作者
Chiu, Rossa W. K. [2 ,3 ]
Chan, K. C. Allen [2 ,3 ]
Gao, Yuan [6 ,7 ]
Lau, Virginia Y. M. [2 ,3 ]
Zheng, Wenli [2 ,3 ]
Leung, Tak Y. [4 ]
Foo, Chris H. F. [5 ]
Xie, Bin [6 ]
Tsui, Nancy B. Y. [2 ,3 ]
Lun, Fiona M. F. [2 ,3 ]
Zee, Benny C. Y. [5 ]
Lau, Tze K. [4 ]
Cantor, Charles R. [1 ]
Lo, Y. M. Dennis [2 ,3 ]
机构
[1] Sequenom Inc, San Diego, CA 92121 USA
[2] Chinese Univ Hong Kong, Ctr Res Circulating Fetal Nucle Acids, Li Ka Shing Inst Hlth Sci, Shatin, Hong Kong, Peoples R China
[3] Chinese Univ Hong Kong, Dept Chem Pathol, Shatin, Hong Kong, Peoples R China
[4] Chinese Univ Hong Kong, Dept Obstet & Gynaecol, Shatin, Hong Kong, Peoples R China
[5] Chinese Univ Hong Kong, Ctr Clin Trials, Shatin, Hong Kong, Peoples R China
[6] Virginia Commonwealth Univ, Ctr Study Biol Complex, Richmond, VA 23284 USA
[7] Virginia Commonwealth Univ, Dept Comp Sci, Richmond, VA 23284 USA
关键词
Down syndrome; Solexa sequencing; trisomy; 21;
D O I
10.1073/pnas.0810641105
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists as a minor fraction among a high background of maternal DNA. Hence, quantitative perturbations caused by an aneuploid chromosome in the fetal genome to the overall representation of sequences from that chromosome in maternal plasma would be small. Even with highly precise single molecule counting methods such as digital PCR, a large number of DNA molecules and hence maternal plasma volume would need to be analyzed to achieve the necessary analytical precision. Here we reasoned that instead of using approaches that target specific gene loci, the use of a locus-independent method would greatly increase the number of target molecules from the aneuploid chromosome that could be analyzed within the same fixed volume of plasma. Hence, we used massively parallel genomic sequencing to quantify maternal plasma DNA sequences for the noninvasive prenatal detection of fetal trisomy 21. Twenty-eight first and second trimester maternal plasma samples were tested. All 14 trisomy 21 fetuses and 14 euploid fetuses were correctly identified. Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.
引用
收藏
页码:20458 / 20463
页数:6
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