Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.

TitleNoninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.
Publication TypeJournal Article
Year of Publication2013
AuthorsGe H, Huang X, Li X, Chen S, Zheng J, Jiang H, Zhang C, Pan X, Guo J, Chen F, Chen N, Fang Q, Jiang H, Wang W
JournalPloS one
Volume8
Issue6
Paginatione67464
Date Published2013
Abstract

The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, noninvasive prenatal detection of chromosome aneuploidy and single base variation has been successfully validated. However, few studies discussed the possibility of noninvasive pathogenic CNVs detection.

DOI10.1039/c3cc43386b
Alternate JournalPLoS ONE