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

1 Jan 2012

Abstract excerpt

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...

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PMID: 22773950
DOI: 10.1098/rsob.120086

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