title: Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy.
abstract: Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer. Areas covered: PGD has followed the tremendous evolution in genetic analysis, with only a slight delay due to adaptations for diagnosis on small samples. Currently, next generation sequencing combining chromosome with single-base pair analysis is on the verge of becoming the golden standard in PGD and PGT-A. Papers highlighting the different steps in the evolution of PGD/PGT-A were selected. Expert commentary: Different methodologies used in PGD/PGT-A with their pros and cons are discussed.
authors.affiliation: a Research Group Reproduction and Genetics , Vrije Universiteit Brussel , Brussels , Belgium.
authors.forename: Karen
authors.initials: K
authors.lastname: Sermon
mesh_terms: D000782:Aneuploidy; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D008297:Male; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000295:instrumentation / Q000379:methods*
keywords: Preimplantation genetic diagnosis; human blastocyst; human preimplantation embryo; in vitro fertilisation; microarray; multiplex pcr; next generation sequencing; preimplantation genetic testing; single-cell analysis