Establishment of prenatal diagnosis of epidermolysis bullosa in Japan

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With the Grant-in-Aid for Scientific Research (B), we have made a prenatal diagnosis of epidermolysis bullosa for the first time in Japan. Prenatal diagnosis of epidermolysis bullosa using fetal skin biopsy specimens has been successfully performed in Europe and America, but this technique has not previously been attempted in Asia. We, for the first time in Asia, attempted tomake a prenatal diagnosis of epidermolysis bullosa in high-risk fetus by fetal skin biopsy. A skin biopsy was obtained from the fetus as risk of gravis type ofjunctional epidermolysis bullosa of Herlitz. The biopsy specime was studied by electron microscopy and by immunohistochemistry using various monoclonal antibodies against epidermal basement membrane zone. There were were no ultrastructural abnormalities in the basement membrane zone, including the hemidesmosomes. Indirect immunofluorescence study showed normal expression of GB3 antigen. The pregnancy was continued, and a normal, healthy infant was born. The prenatal diagnosis of epidermolysis bullosa is now available in Tokyo. This clinical diagnostic service is available to families from various parts of Asia.