Prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. In recent years Next Generation Sequencing (NGS) has become an important tool not only for gene discovery and research area but also for clinical diagnosis. To date, few studies have described the clinical use of NGS in prenatal diagnosis, most of which have concentrated on the study of single case report . However, only a very limited number have evaluated the use of NGS for the identification of chromosome aneuploidies and rearrangements following birth and before birth.
Citation: Russo CD, Di Giacomo G, Mesoraca A, Bizzoco D, McCluskey MR, et al. (2014) Comparative Study of a CGH and Next Generation Sequencing (NGS) for Chromosomal Microdeletion and Microduplication Screening. J Clin Case Rep 4:455