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Preimplantation genetic diagnosis of severe inherited skin diseases
Author(s) -
McGrath J. A.,
Handyside A. H.
Publication year - 1998
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.1600-0625.1998.tb00305.x
Subject(s) - preimplantation genetic diagnosis , prenatal diagnosis , chorionic villus sampling , genetic disorder , medicine , pregnancy , disease , genetic diagnosis , fetus , obstetrics , bioinformatics , biology , pathology , genetics , gene
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 techology 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.