title: PGD for monogenic disorders: aspects of molecular biology.
abstract: Preimplantation genetic diagnosis (PGD) for monogenic diseases has known a considerable evolution since its first application in the early 1990s. Especially the technical aspects of the genetic diagnosis itself, the single-cell genetic analysis, has constantly evolved to reach levels of accuracy and efficiency nearing those of genetic diagnosis on regular DNA samples. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for monogenic disorders, including multiplex polymerase chain reaction (PCR) and post-PCR diagnostic methods, whole genome amplification (WGA) and multiple displacement amplification (MDA). As it becomes more and more clear that when it comes to ethically difficult indications, PGD goes further than prenatal diagnosis (PND), we will also briefly discuss ethical issues.
authors.affiliation: Department of Embryology and Genetics of the Vrije Universiteit Brussel and the Centre for Medical Genetics of the UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. claudia.spits@uzbrussel.be
authors.forename: Claudia
authors.initials: C
authors.lastname: Spits
authors.forename: Karen
authors.initials: K
authors.lastname: Sermon
mesh_terms: D022981:Allelic Imbalance / Q000235:genetics*; D005260:Female; D006801:Humans; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000941:ethics / Q000379:methods*