Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

2011 ◽  
Vol 2011 ◽  
pp. 62-64 ◽  
Author(s):  
J.S. Dungan
Keyword(s):  
Dna Sequencing ◽  
Trisomy 21 ◽  
Large Scale ◽  
Maternal Plasma ◽  
Validity Study ◽  
Plasma Dna ◽  
Scale Validity ◽  
Non Invasive

scholarly journals Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

BMJ ◽  
2011 ◽  
Vol 342 (jan11 1) ◽  
pp. c7401-c7401 ◽  
Author(s):  
R. W. K. Chiu ◽  
R. Akolekar ◽  
Y. W. L. Zheng ◽  
T. Y. Leung ◽  
H. Sun ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Trisomy 21 ◽  
Large Scale ◽  
Maternal Plasma ◽  
Validity Study ◽  
Plasma Dna ◽  
Scale Validity ◽  
Non Invasive

Noninvasive prenatal testing for fetal trisomy 9 mosaicism by maternal plasma DNA sequencing

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Luming Sun ◽  
Lei Zhang ◽  
Jia Zhou ◽  
Xiaonan Yang ◽  
Tao Duan ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Detection Efficiency ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Trisomy 9 ◽  
Screening And Diagnosis

AbstractMaternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies

2012 ◽  
Vol 26 (4) ◽  
pp. 434-437 ◽  
Author(s):  
Tze Kin Lau ◽  
Fuman Jiang ◽  
Mei Ki Chan ◽  
Hongyun Zhang ◽  
Pui Shan Salome Lo ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Dna Sequencing ◽  
Prenatal Screening ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Non Invasive ◽  
Twin Pregnancies

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

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

scholarly journals Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21

2010 ◽  
Vol 56 (3) ◽  
pp. 459-463 ◽  
Author(s):  
Rossa WK Chiu ◽  
Hao Sun ◽  
Ranjit Akolekar ◽  
Christopher Clouser ◽  
Clarence Lee ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Massively Parallel Sequencing ◽  
Maternal Plasma ◽  
Chromosome 21 ◽  
Massively Parallel ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Noninvasive Prenatal Diagnosis ◽  
Sequencing By Synthesis

Abstract Background: Noninvasive prenatal diagnosis of trisomy 21 (T21) has recently been shown to be achievable by massively parallel sequencing of maternal plasma on a sequencing-by-synthesis platform. The quantification of several other human chromosomes, including chromosomes 18 and 13, has been shown to be less precise, however, with quantitative biases related to the chromosomal GC content. Methods: Maternal plasma DNA from 10 euploid and 5 T21 pregnancies was sequenced with a sequencing-by-ligation approach. We calculated the genomic representations (GRs) of sequenced reads from each chromosome and their associated measurement CVs and compared the GRs of chromosome 21 (chr21) for the euploid and T21 pregnancies. Results: We obtained a median of 12 × 106 unique reads (21% of the total reads) per sample. The GRs deviated from those expected for some chromosomes but in a manner different from that previously reported for the sequencing-by-synthesis approach. Measurements of the GRs for chromosomes 18 and 13 were less precise than for chr21. z Scores of the GR of chr21 were increased in the T21 pregnancies, compared with the euploid pregnancies. Conclusions: Massively parallel sequencing-by-ligation of maternal plasma DNA was effective in identifying T21 fetuses noninvasively. The quantitative biases observed among the GRs of certain chromosomes were more likely based on analytical factors than biological factors. Further research is needed to enhance the precision for measuring for the representations of chromosomes 18 and 13.

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