NDLI: Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Content Provider	PubMed Central
Author	Chen, Eric Z. Chiu, Rossa W. K. Sun, Hao Ranjit, Akolekar Chan, K. C. Allen Leung, Tak Y. Jiang, Peiyong Zheng, Yama W. L. Lun, Fiona M. F. Chan, Lisa Y. S. Jin, Yongjie Go, Attie T. J. I. Lau, Elizabeth T. To, William W. K. Leung, Wing C. Tang, Rebecca Y. K. Au Yeung, Sidney K. C. Lam, Helena Kung, Yu Y. Zhang, Xiuqing Vugt, John M. G. Van Minekawa, Ryoko Tang, Mary H. Y. Wang, Jun Oudejans, Cees B. M. Lau, Tze K. Nicolaides, Kypros H. Lo, Y. M. Dennis
Editor	Janecke, Andreas R.
Copyright Year	2011
Abstract	Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a trisomy 13 fetus and 37 involved a trisomy 18 fetus, by massively parallel sequencing. By using our previously reported standard z-score approach, we demonstrated that this approach could identify 36.0% and 73.0% of trisomy 13 and 18 at specificities of 92.4% and 97.2%, respectively. We aimed to improve the detection of trisomy 13 and 18 by using a non-repeat-masked reference human genome instead of a repeat-masked one to increase the number of aligned sequence reads for each sample. We then applied a bioinformatics approach to correct GC content bias in the sequencing data. With these measures, we detected all (25 out of 25) trisomy 13 fetuses at a specificity of 98.9% (261 out of 264 non-trisomy 13 cases), and 91.9% (34 out of 37) of the trisomy 18 fetuses at 98.0% specificity (247 out of 252 non-trisomy 18 cases). These data indicate that with appropriate bioinformatics analysis, noninvasive prenatal diagnosis of trisomy 13 and trisomy 18 by maternal plasma DNA sequencing is achievable.
Related Links	http://dx.doi.org/10.1371/journal.pone.0021791
Starting Page	21791
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	7
Volume Number	6
Language	English
Publisher	Public Library of Science
Publisher Date	2011-07-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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