title: Preimplantation genetic diagnosis of severe inherited skin diseases.
abstract: Considerable progress has been made recently in elucidating the molecular pathology underlying several forms of inherited skin diseases. One of the most immediate benefits of these discoveries has been the development of DNA-based prenatal diagnosis in pregnancies at risk for recurrence of a particular disorder. In less than 2 decades, prenatal testing has progressed from mid-trimester fetal skin biopsies or protein analysis in a limited number of conditions to first trimester chorionic villus sampling in a much broader range of genodermatoses. Advances in in vitro fertilization protocols and embryo manipulation technology have further led to the feasibility of even earlier prenatal diagnosis through preimplantation genetic diagnosis. This article details some of the recent advances in genetic skin disease research relevant to prenatal diagnosis and explores the possibilities and practicalities of preimplantation genetic diagnosis in the prevention of these conditions.
authors.affiliation: Department of Cell and Molecular Pathology, St John's Institute of Dermatology, London, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.forename: A H
authors.initials: AH
authors.lastname: Handyside
mesh_terms: D000818:Animals; D004247:DNA / Q000032:analysis / Q000235:genetics; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D012871:Skin Diseases / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA