Rapid prenatal diagnosis of epidermolysis bullosa letalis using GB3 monoclonal antibody

Abstract

The prenatal diagnosis of epidermolysis bullosa letalis was made by demonstrating a marked reduction of normal immunofluorescence staining with the monoclonal antibody GB3 in a fetal skin biopsy obtained at 18 weeks' gestation. The diagnosis was confirmed by conventional electron microscopy using established techniques. The affected pregnancy continued to term and a baby was delivered who rapidly developed blistering affecting the buttocks, lower limbs and mouth. This technique is simpler and quicker than electron microscopy, yet appears to retain the same degree of accuracy.