Article
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA.
PloS one - 1 Jan 2012
Liao Gary J W, Chan K C Allen, Jiang Peiyong, Sun Hao, Leung Tak Y, Chiu Rossa W K, Lo Y M Dennis
Abstract excerpt
BACKGROUND: Plasma DNA obtained from a pregnant woman contains a mixture of maternal and fetal DNA. The fetal DNA proportion in maternal plasma is relatively consistent as determined using polymorphic genetic markers across different chromosomes in euploid pregnancies. For aneuploid pregnancies, the observed fetal DNA proportion measured using polymorphic genetic markers for the aneuploid chromosome would be...
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