title: Preimplantation genetic diagnosis: recent triumphs and remaining challenges.
abstract: Over the last 20 years, preimplantation genetic diagnosis (PGD) has changed from being an experimental procedure to one that is carried out in specialized diagnostic centers worldwide. Genetic awareness and the rapid identification of germline mutations or chromosomal abnormalities enable individuals to know their risk of transmitting a genetic disease before they have children. This has created a demand for PGD from couples who wish to avoid terminations of affected pregnancies. Although PGD is expensive because it requires couples to go through IVF, there is a trend for diagnosis to move towards automation, which will reduce cost and the need for specialized expertise. This will allow diagnosis to be carried out in routine molecular diagnostic laboratories.
authors: University College London Centre for Preimplantation Genetic Diagnosis, Institute for Women's Health, University College London, 86-96 Chenies Mews, London, WC1E 6HX, UK. s.sengupta@ucl.ac.uk
authors: Sioban B
authors: SB
authors: SenGupta
authors: Joy D A
authors: JD
authors: Delhanty
mesh_terms: D005307:Fertilization in Vitro; D005820:Genetic Testing / Q000379:methods; D023281:Genomics / Q000379:methods; D006801:Humans; D019836:Preimplantation Diagnosis / Q000379:methods*