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Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

Y M Dennis Lo, Nancy B Y Tsui, Rossa W K Chiu, Tze K Lau, Tse N Leung, Macy M S Heung, Ageliki Gerovassili, Yongjie Jin, Kypros H Nicolaides, Charles R Cantor & Chunming Ding

Nature Medicine 13, 218 - 223 (2007) Published online: 7 January 2007

doi:10.1038/nm1530

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Figure 1 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, or to obtain a text description, please contact npg@nature.com

Figure 1

Schematic of the RNA-SNP allelic ratio strategy for noninvasive detection of fetal trisomy 21 through maternal plasma analysis by the relative quantification of alleles of placenta-expressed transcripts located on chromosome 21.

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Figure 2

Detection of PLAC4 mRNA in maternal plasma.

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Figure 3

Schematic illustration of the analytical approach for RNA-SNP allelic ratio determination.

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Figure 4

PLAC4 mRNA for fetal trisomy-21 detection.

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Figure 5

The relative insensitivity of RNA-SNP ratio analysis to gestational age and placental mosaicism.

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