Prenatal detection of chromosomal abnormalities by array-based comparative genomic hybridization

Conventional cytogenetic analysis is highly reliable method for aneuploidy detection, however, the major limitation lies in that it requires a time-consuming culture process and a highly-skilled technique for metaphase karyotyping. cDNA microarray-based comparative genomic hybridization (Microarray-CGH) techniques are applied in variety of field such as cancer biology, human genetics and other whole-genome studies. In this study, we performed the microarray-CGH using genomic DNA from amniotic fluid and chorionic villi obtained from 15 pregnant women and validated the cytogenetic and FISH analysis for the prenatal diagnosis of chromosomal abnormalities. Using this technique, we detected three cases of Down syndrome (trisomy 21), one case of Turner syndrome (45, X), one case of isochromosome-X syndrome (46, X i(Xq)) and one case of XYY syndrome (47, XYY). The Microarray-CGH results showed an excellent concordance with that of cytogenetic analysis and FISH analysis.