title: Spectral karyotyping (SKY): applications in prenatal diagnostics.
abstract: The method of spectral karyotyping (SKY) is based on a combination of the technologies of charge-coupled device imaging and spectrometry. The engineering feasibility has been realized in the SpectraCube system from Applied Spectral Imaging Inc., and it allows the simultaneous identification of all 24 human chromosomes. This is performed by characterizing the spectral signature of every image pixel in relation to a fluorochrome combinatorial library translating the image and spectral information into chromosome classification. Applications for SKY include pre- and postnatal characterization of certain numerical and structural rearrangements and complex karyotypes and highly informative analysis of sample materials with only single or few cells available for investigation.
authors.affiliation: Laboratory of Prenatal Medicine, University Women's Hospital/Department of Research, Basel, Switzerland.
authors.forename: Susanne
authors.initials: S
authors.lastname: Mergenthaler-Gatfield
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holzgreve
authors.forename: Sinuhe
authors.initials: S
authors.lastname: Hahn
mesh_terms: D002877:Chromosomes, Human / Q000145:classification*; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000295:instrumentation / Q000379:methods*; D012815:Signal Processing, Computer-Assisted; D032681:Spectral Karyotyping / Q000295:instrumentation