Prenatal diagnosis of epidermolysis bullosa: first successful trial in Asia.
Prenatal diagnosis of epidermolysis bullosa: first successful trial in Asia.
复制标题
大疱性表皮松解症的产前诊断：亚洲首次成功试验。
作者：
Hiroshi Shimizu;Y. Onodera;S. Ikeda;H. Ogawa;K. Suzumori;T. Nishikawa
使用胎儿皮肤活检标本进行大疱性表皮病（EB）的产前诊断在欧洲和美国已经成功地进行，但这种技术以前在亚洲还没有尝试过。在亚洲，我们首次尝试通过胎儿皮肤活检对高危胎儿进行EB的产前诊断。从存在Herlitz重症型交界性大疱性表皮松质病风险的胎儿中获得皮肤活检。活检标本进行了研究，电子显微镜和免疫组化使用各种单克隆抗体对表皮基底膜带（BMZ）。在BMZ中没有超微结构异常，包括半桥粒。间接免疫荧光显示GB3抗原表达正常。怀孕继续，一个正常健康的婴儿出生了。大疱性表皮病的产前诊断现在在东京都可以进行。这项临床诊断服务面向亚洲各地的家庭。
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.