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Article

Non-Invasive Epigenetic Detection of Fetal Trisomy 21 in First Trimester Maternal Plasma

23 Nov 2011

Abstract excerpt

BACKGROUND: Down syndrome (DS) is the most common known aneuploidy, caused by an extra copy of all or part of chromosome 21. Fetal-specific epigenetic markers have been investigated for non-invasive prenatal detection of fetal DS. The phosphodiesterases gene, PDE9A, located on chromosome 21q22.3, is completely methylated in blood (M-PDE9A) and unmethylated in the placenta (U-PDE9A). Therefore, we estimated the...

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PMID: 22132128
DOI: 10.1371/journal.pone.0027709

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