Fetal molecular karyotyping using cffDNA

A new paper from Srinivasan et al in the USA has shown that molecular karyotyping of the fetus is possible using cffDNA. The research team was able to detect small changes to the fetal chromosomes using deep massively parallel sequencing of cffDNA isolated from maternal blood samples. This proof-of-principle study looked at the maternal plasma from 11 women known to be carrying a fetus with subchromosomal abnormalities. The researchers were able to detect microdeletions, duplications, translocations and trisomy 20 with a resolution of about 100kb. It was not possible to detect chromosomal changes in 4 mosaic cases. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP. Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma. Am J Hum Genet. 2013 Jan 9. [Epub ahead of print]...