title: BACs-on-beads: a new robust and rapid detection method for prenatal diagnosis.
abstract: Karyotyping, the gold standard used for diagnosis of chromosomal abnormalities, is being progressively replaced by rapid aneuploidy testing (RAT) techniques such as quantitative fluorescence-PCR, FISH and multiplex ligation-dependent probe amplification for diagnosing the common aneuploidies or chromosomal microarray analysis for comprehensive genome-wide testing. However, due to technical limitations, current RATs are confined to the detection of common aneuploidies 13, 18, 21 and sex chromosomes. To overcome the limitations of RATs, a bacterial artificial chromosomes-on-beads (BoBs™) assay technology has been introduced for the detection of the common aneuploidies as well as specific microdeletion syndromes. The BoBs assay is a bead-based multiplex assay using polystyrene beads impregnated with two spectrally distinct infrared fluorochromes to create a liquid array of up to 100 unique spectral signatures that supports the analysis of that scale of simultaneous hybridization assays on a minute DNA sample. This review gives an overview on the collective experiences of BoBs applications in prenatal diagnosis.
authors.affiliation: Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China.
authors.forename: Richard Kwong Wai
authors.initials: RK
authors.lastname: Choy
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.forename: Xiao-Fang
authors.initials: XF
authors.lastname: Sun
authors.forename: Yvonne Ka Yin
authors.initials: YK
authors.lastname: Kwok
authors.forename: Tak Yeung
authors.initials: TY
authors.lastname: Leung
mesh_terms: D025063:Chromosome Disorders / Q000175:diagnosis*; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D005260:Female; D006801:Humans; D008863:Microspheres; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity