Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

2013 ◽  
Vol 34 (2) ◽  
pp. 185-191 ◽  
Author(s):  
Markus Stumm ◽  
Michael Entezami ◽  
Karsten Haug ◽  
Cornelia Blank ◽  
Max Wüstemann ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Massively Parallel Sequencing ◽  
Collaborative Study ◽  
Massively Parallel ◽  
Parallel Sequencing ◽  
Non Invasive ◽  
Prenatal Detection

scholarly journals Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA

Open Biology ◽  
2012 ◽  
Vol 2 (6) ◽  
pp. 120086 ◽  
Author(s):  
Yuk Ming Dennis Lo
Keyword(s):  
Prenatal Diagnosis ◽  
Massively Parallel Sequencing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Non Invasive ◽  
Prenatal Detection ◽  
A Genome ◽  
Chromosomal Aneuploidies

The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the detection of the presence of a trisomic foetus, as long as enough molecules were counted. With the advent of massively parallel sequencing, millions or billions of DNA molecules can be readily counted. Using massively parallel sequencing, foetal trisomies 21, 13 and 18 have been detected from maternal plasma. Recently, large-scale clinical studies have validated the robustness of this approach for the prenatal detection of foetal chromosomal aneuploidies. A proof-of-concept study has also shown that a genome-wide genetic and mutational map of a foetus can be constructed from the maternal plasma DNA sequencing data. These developments suggest that the analysis of foetal DNA in maternal plasma would play an increasingly important role in future obstetrics practice. It is thus a priority that the ethical, social and legal issues regarding this technology be systematically studied.

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

2013 ◽  
Vol 33 (5) ◽  
pp. 409-415 ◽  
Author(s):  
Desheng Liang ◽  
Weigang Lv ◽  
Hua Wang ◽  
Liangpu Xu ◽  
Jing Liu ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Massively Parallel ◽  
Parallel Sequencing ◽  
Non Invasive ◽  
Chromosome Aneuploidy
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