title: Genetic testing in Marfan syndrome.
abstract: Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.
authors.affiliation: Reader in Cardiovascular Genetics in the Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London SW17 0RE.
authors.forename: Anne H
authors.initials: AH
authors.lastname: Child
authors.affiliation: Scientific Director of the Sonalee Laboratory, Cardiovascular and Cell Sciences Research Institute, St George's, University of London, London.
authors.forename: Jose A
authors.initials: JA
authors.lastname: Aragon-Martin
authors.affiliation: Medical Genetic Counsellor and PGD Specialist, The Bridge Centre, London Fertility Clinic, London.
authors.forename: Karen
authors.initials: K
authors.lastname: Sage
mesh_terms: D000649:Amniocentesis / Q000379:methods; D015193:Chorionic Villi Sampling / Q000379:methods; D003240:Connective Tissue Diseases / Q000235:genetics / Q000503:physiopathology; D000071837:Fibrillins; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D019836:Preimplantation Diagnosis / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins