Heagerty A H, Eady R A, Kennedy A R, Nicolaides K H, Rodeck C H, Hsi B L, Ortonne J P
Department of Electron Microscopy and Cell Pathology, United Medical School, St. Thomas' Hospital, London, U.K.
Br J Dermatol. 1987 Sep;117(3):271-5. doi: 10.1111/j.1365-2133.1987.tb04132.x.
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.
通过对妊娠18周时获取的胎儿皮肤活检标本进行检测，发现使用单克隆抗体GB3进行的正常免疫荧光染色显著减少，从而做出了致死性大疱性表皮松解症的产前诊断。采用既定技术进行的传统电子显微镜检查证实了该诊断。受影响的妊娠持续至足月并分娩出一名婴儿，该婴儿迅速出现水疱，累及臀部、下肢和口腔。这项技术比电子显微镜检查更简单、更快，但似乎保持了相同程度的准确性。
