Prenatal Diagnosis of Epidermolysis Bullosa

Abstract

One of the most significant benefits of translational research in dermatology has been the development of prenatal diagnosis for couples at risk of recurrence of severe inherited skin diseases. Indeed, over the last 30 years a greater understanding of the molecular basis of epidermolysis bullosa (EB), as well as technical refinements in laboratory procedures, has facilitated the development of several different approaches for prenatal diagnosis. Initial tests were based on fetal skin biopsy sampling, but these have largely been superseded by DNA based analyses, mostly using fetal DNA derived from chorionic villus sampling taken at around 10--12 weeks' gestation. Further advances, however, have led to the introduction of licensed preimplantation genetic screening for some forms of EB, an approach that defines a disease-associated genotype before implantation into the uterus. Pioneering research also continues to try to develop less invasive approaches with the prospects of maternal blood sampling early during the first trimester as a feasible objective. The availability of several different options for prenatal diagnostic testing therefore has led to an increased choice for families at risk of recurrence of EB.