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BOOK TITLE: Principles and Practice of Assisted Reproductive Technology
This chapter deals with the discussion on role of aneuploidy screening in preimplantation embryos. Aneuploidy is the presence of abnormal number of chromosomes, either extra or missing chromosomes, in the nucleus of a cell. It results from failure of separation of the paired chromosomes during cell division. Aneuploidy in preimplantation embryos can primarily arise during three developmental stages, i.e. the premeiotic divisions during gametogenesis, the meiotic division of gametogenesis, and the early mitotic divisions during embryogenesis stage. Preimplantation genetic screening (PGS) is performed in patients having no known chromosomal anomaly, mutation or other genetic abnormality. Proper counseling is very critical because in vitro fertilization patients planned for PGS do not have any specific identifiable genetic abnormality per se, and PGS is recommended in order to detect aneuploidies so that the chances of pregnancy may be increased in such patients. Techniques and limitations, different methods for chromosomal analysis, results of aneuploidy screening in various patient groups, concerns with preimplantation genetic screening, preimplantation genetic screening as universal screening are covered briefly in this chapter.