title: Preimplantation genetic diagnosis: current status and new developments.
abstract: Preimplantation genetic diagnosis (PGD) is a very early form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic diseases before implantation. To this end, two major technologies are in use: the polymerase chain reaction (PCR) for monogenic diseases and fluorescent in-situ hybridization (FISH) for chromosomal aberrations. In this review, a number of problems arising from the use of these technologies, as well as their possible solutions and new developments, are discussed. Concerning PCR, the phenomenon of allelic drop-out, as well as methods to reduce this problem, such as fluorescent PCR, are described. The advantages and disadvantages of sperm separation by flow cytometry as an adjunct to sex determination for the avoidance of X-linked disease are discussed. The application of FISH for aneuploidy detection is commented upon and the advances in cell recycling, in which PCR and FISH are combined, are analysed. Finally, diseases for which PGD is currently possible are summarized.
authors.affiliation: Centre for Medical Genetics, University Hospital and Medical School of the Dutch-speaking Brussels Free University, Belgium.
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: K
authors.initials: K
authors.lastname: Sermon
mesh_terms: D000483:Alleles; D005544:Forecasting; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000639:trends; D012732:Sex Determination Analysis