Preimplantation Genetic Diagnosis

Preimplantation genetic diagnosis pertains to the technique of collecting polar bodies of an oocyte or embryonic cells for screening of potential genetic disorders. This screening method is generally employed prior to in vitro fertilization. The identification of chromosomal abnormalities facilitates the selection of embryos that would be used in fertilization. The first attempts at preimplantation genetic diagnosis were conducted in the 1990s, with the initial goal of assessing the occurrence of monogenic diseases, as well as sex-linked disorders. This technique later was expanded to include testing for gross chromosomal rearrangements such as deletions and translocations.

Recent improvements in the field have also integrated screening for all 23 pairs of somatic chromosomes using microarrays. In the last 10 years, preimplantation genetic diagnosis has transpired into an almost ...