title: Detection of structural and numerical chromosome abnormalities in interphase cells using spectral imaging.
abstract: Chromosome abnormalities are common causes of congenital malformations and spontaneous abortions. They include structural abnormalities, polyploidy, trisomy, and mosaicism. In in vitro fertilization (IVF) programs, preimplantation genetic diagnosis (PGD) of oocytes and embryos has become the technique of choice to select against abnormal embryos before embryo transfer. For diagnosis of structural abnormalities, we developed case-specific breakpoint-spanning DNA probes. Screening of an in-house yeast artificial chromosome (YAC) library is facilitated by information from publicly available databases and published articles. Most numerical chromosome abnormalities, on the other hand, are detrimental to early embryonic development and increase with maternal age. We therefore developed a multichromosome screening technique based on spectral imaging to simultaneously detect and score as many as 10 different chromosome types. The probe set was chosen to detect more than 70% of all numerical chromosome aberrations responsible for spontaneous abortions. Detecting structural and numerical abnormalities in single interphase cells using spectral imaging is a powerful technique for multilocus genetic screening.
authors.affiliation: Reproductive Genetics Unit, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California 94143-0720, USA.
authors.forename: J
authors.initials: J
authors.lastname: Fung
authors.forename: H U
authors.initials: HU
authors.lastname: Weier
authors.forename: R A
authors.initials: RA
authors.lastname: Pedersen
mesh_terms: D002869:Chromosome Aberrations / Q000175:diagnosis*; D019457:Chromosome Breakage; D025063:Chromosome Disorders; D015342:DNA Probes; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods*; D007399:Interphase / Q000235:genetics*; D008856:Microscopy, Fluorescence / Q000379:methods*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*
chemical_list: D015342:DNA Probes