The role of comparative genomic hybridisation in prenatal diagnosis

The aims of this study were to assess the feasibility of using comparative genomic hybridisation instead of conventional cytogenetics in prenatal diag nosis and to determine the size of DNA loss that can be detected. Using com parative genomic hybridisation, six cases with standard aneuploidies were d iagnosed correctly. This technique clearly identified a partial duplication of the long arm of chromosome 1 but was not capable of detecting the assoc iated inversion. A small interstitial deletion on short arm of chromosome 1 0 also was detected precisely. Although the current comparative genomic hyb ridisation resolution is similar to the sensitivity of the highest resoluti on G banding, the latter is not a routine strategy in prenatal diagnosis. C omparative genomic hybridisation can allow full chromosome assessment equal to the highest resolution cytogenetic studies without the need for cell cu lture.