Abstract
Array comparative genomic hybridisation (aCGH) represents a major advance in the field of cytogenetics and offers tremendous promise in prenatal diagnosis for the detection of genetic alterations leading to serious genetic conditions. This technology, also sometimes known as molecular karyotyping, can detect differences in DNA copy number at hundreds or thousands of points in the genome simultaneously.
At this stage of the development of aCGH technology, a number of recommendations can be made for clinical use. These recommendations should be revisited as information about its clinical validity and utility is obtained, and as the accuracy, resolution and cost of aCGH-based tests evolve.