Fetal aneuploidy detection by maternal plasma DNA sequencing: a technology assessment

2013 ◽  
Vol 33 (6) ◽  
pp. 514-520 ◽  
Author(s):  
Judith M. E. Walsh ◽  
James D. Goldberg
Keyword(s):  
Dna Sequencing ◽  
Technology Assessment ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Fetal Aneuploidy

scholarly journals Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

2012 ◽  
Vol 119 (6) ◽  
pp. 1270-1271 ◽  
Author(s):  
Diana W. Bianchi ◽  
Amy J. Sehnert ◽  
Richard P. Rava
Keyword(s):  
Dna Sequencing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Fetal Aneuploidy ◽  
Genome Wide

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

2012 ◽  
Vol 119 (6) ◽  
pp. 1270 ◽  
Author(s):  
Peter Benn ◽  
Howard Cuckle ◽  
Eugene Pergament
Keyword(s):  
Dna Sequencing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Fetal Aneuploidy ◽  
Genome Wide

Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘False positive’ due to confined placental mosaicism

2012 ◽  
Vol 33 (2) ◽  
pp. 198-200 ◽  
Author(s):  
H. Choi ◽  
T. K. Lau ◽  
F. M. Jiang ◽  
M. K. Chan ◽  
H. Y. Zhang ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
False Positive ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Aneuploidy Screening ◽  
Fetal Aneuploidy ◽  
Placental Mosaicism

scholarly journals Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

2012 ◽  
Vol 119 (5) ◽  
pp. 890-901 ◽  
Author(s):  
Diana W. Bianchi ◽  
Lawrence D. Platt ◽  
James D. Goldberg ◽  
Alfred Z. Abuhamad ◽  
Amy J. Sehnert ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Fetal Aneuploidy ◽  
Genome Wide

scholarly journals Feasibility Study of Semiconductor Sequencing for Noninvasive Prenatal Detection of Fetal Aneuploidy

2013 ◽  
Vol 59 (5) ◽  
pp. 846-849 ◽  
Author(s):  
Yuan Yuan ◽  
Fuman Jiang ◽  
Sang Hua ◽  
Bole Du ◽  
Yibin Hao ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Trisomy 13 ◽  
Personal Genome ◽  
Plasma Dna ◽  
Sequencing Technology ◽  
Fetal Aneuploidy ◽  
Prenatal Detection ◽  
Semiconductor Sequencing ◽  
Sequencing Platforms ◽  
Fetal Aneuploidies

BACKGROUND Noninvasive prenatal detection of common fetal aneuploidies with cell-free DNA from maternal plasma has been achieved with high-throughput next-generation sequencing platforms. Turnaround times for previously tested platforms are still unsatisfactory for clinical applications, however, because of the time spent on sequencing. The development of semiconductor sequencing technology has provided a way to shorten overall run times. We studied the feasibility of using semiconductor sequencing technology for the noninvasive detection of fetal aneuploidy. METHODS Maternal plasma DNA from 13 pregnant women, corresponding to 4 euploid, 6 trisomy 21 (T21), 2 trisomy 18 (T18), and 1 trisomy 13 (T13) pregnancies, were sequenced on the Ion Torrent Personal Genome Machine sequencer platform with 318 chips. The data were analyzed with the T statistic method after correcting for GC bias, and the T value was calculated as an indicator of fetal aneuploidy. RESULTS We obtained a mean of 3 524 401 high-quality reads per sample, with an efficiency rate of 77.9%. All of the T21, T13, and T18 fetuses could be clearly distinguished from euploid fetuses, and the time spent on library preparation and sequencing was 24 h. CONCLUSIONS Semiconductor sequencing represents a suitable technology for the noninvasive prenatal detection of fetal aneuploidy. With this platform, sequencing times can be substantially reduced; however, a further larger-scale study is needed to determine the imprecision of noninvasive fetal aneuploidy detection with this system.

Noninvasive twin zygosity assessment and aneuploidy detection by maternal plasma DNA sequencing

2013 ◽  
Vol 33 (7) ◽  
pp. 675-681 ◽  
Author(s):  
Tak Y. Leung ◽  
James Z. Z. Qu ◽  
Gary J. W. Liao ◽  
Peiyong Jiang ◽  
Yvonne K. Y. Cheng ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Maternal Plasma ◽  
Plasma Dna
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