COMPARISON OF COMPARATIVE GENOMIC HYBRIDIZATION WITH CONVENTIONAL KARYOTYPE AND CLASSICAL FLUORESCENCE IN-SITU HYBRIDIZATION FOR PRENATAL AND POSTNATAL DIAGNOSIS OF UNBALANCED CHROMOSOME-ABNORMALITIES

The comparative genomic hybridization (CGH) technique was initially us ed for detection of chromosomal imbalances in tumor cells. CGH can als o be used as a supplementary method to karyotypic analysis in clinical cytogenetic cases. Tn order to evaluate CGH usefulness in prenatal an d postnatal analysis of whole chromosome and segmental aneusomies, we investigated 13 clinical samples from blood, cultured chorionic villi, cultured amniotic fluids and uncultured amniotic fluids. These specim ens, initially analyzed by conventional cytogenetics, included 5p mono somy, 9p duplication, add 6p, unbalanced translocation between chromos omes 5 and 10, mosaic tetrasomy 12p (50%), unbalanced (X;X) translocat ion and Prader-Willi deletion(15q11-13). In addition, six numerical ch romosome aberrations (tetrasomy X, trisomies 13, 18, 21 and monosomy X ) were analysed. All the chromosomal abnormalities, except the Prader- Willi deletion, were correctly detected by CGH. Here, we have demonstr ated that the CGH technique is an alternative to classical fluorescenc e in situ hybridization using specific probes for detection of the unb alanced chromosomal aberrations in prenatal and postnatal diagnosis an d could be used for rapid prenatal screening for unbalanced aberration s.