title: Prenatal diagnosis of epidermolysis bullosa: first successful trial in Asia.
abstract: Prenatal diagnosis of epidermolysis bullosa (EB) using fetal skin biopsy specimens has been successfully performed in Europe and America, but this technique has not previously been attempted in Asia. For the first time in Asia, we attempted to make a prenatal diagnosis of EB in a high-risk fetus by fetal skin biopsy. A skin biopsy was obtained from the fetus at risk of gravis type junctional epidermolysis bullosa of Herlitz. The biopsy specimen was studied by electron microscopy and immunohistochemistry using various monoclonal antibodies against the epidermal basement membrane zone (BMZ). There were no ultrastructural abnormalities in the BMZ, including the hemidesmosomes. Indirect immunofluorescence 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.
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.forename: Y
authors.initials: Y
authors.lastname: Onodera
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Ogawa
authors.forename: K
authors.initials: K
authors.lastname: Suzumori
authors.forename: T
authors.initials: T
authors.lastname: Nishikawa
mesh_terms: D001707:Biopsy, Needle; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D005333:Fetus; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D012867:Skin / Q000473:pathology