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Prenatal genome sequencing

A study in pregnant women suggests fetal whole-genome sequencing could help detect chromosomal abnormalities. In blood from two pregnant women, a DNA isolation and enrichment procedure allowed the sequencing of the complete fetal genome, leading to the detection of a 2.85 Mb deletion associated with DiGeorge syndrome. Next steps could include development of screening procedures to detect the presence of hereditary disease alleles in fetal DNA circulating in maternal blood.

SciBX 5(34); doi:10.1038/scibx.2012.909
Published online Aug. 30, 2012

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Fan, H.C. et al. Nature; published online July 4, 2012;
doi:10.1038/nature11251
Contact: Stephen R. Quake, Stanford University, Stanford, Calif.
e-mail:

quake@stanford.edu