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Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18.

G. Ashoor,A. Syngelaki,2 Authors,K. Nicolaides

2012 · DOI: 10.1016/j.ajog.2012.01.029
American Journal of Obstetrics and Gynecology · 309 Citations

TLDR

In this study, chromosome-selective sequencing of cell-free DNA separated all cases of trisomy 21 and 98% oftrisomy 18 from euploid pregnancies.