(Wessex) Technology Assessment ChromoQuant™ (version 1)

ResultChromoQuant Result concordant with karyotype:i) no additional tests requiredRetrospectivelycollectedsamples (n=87)54 (62%)43 (80%)Prospectivelycollectedamniotic fluidsamples (n=91)51 (56%)37 (72.5%)ii)extra markers tested for informativity11 (20%)14 (27.5%)ChromoQuant Result ambiguous:i) single marker repeats required:those involving markers C, P or O27 (31%)23 (85%)19 (83%)36 (40%)29 (80.5%)28 (96.5%)ii)informativity (extra X markers)4 (15%)4 (11%)iii)whole tube amplification failures05 (14%)ChromoQuant Result discordant with karyotype:i) Due to limitations of QF PCR technique6 (7%)4 (67%)4 (4.4%)3 (75%)ii)ChromoQuant specific2 (33%)1 (25%)Table 4: Summary of concordance of ChromoQuant result with sample karyotype11