Arnold M L, Rauskolb R, Anton-Lamprecht I, Schinzel A, Schmid W
Prenat Diagn. 1984 Mar-Apr;4(2):85-98. doi: 10.1002/pd.1970040202.
This paper reports on successful prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia (AED) by means of light and electron microscopy on fetal skin biopsies obtained under fetoscopy. In the present family two brothers of the proband were severely affected with the full symptomatology of AED, the pregnant female and her mother revealed minor symptoms with patches of skin lacking vellus hair. Control of lesional skin of the affected family members by electron microscopy revealed no ultrastructural abnormalities. However, all biopsies lacked skin appendages including hair follicles, sebaceous glands, and sweat glands. The lack of pilosebaceous follicles can be used as a diagnostic criterion since these structures are fully developed in normal fetuses of 20 weeks whereas the development of sweat glands does not start before week 20 to 24 of fetal life. Skin biopsies were taken from various regions of the fetus at risk via fetoscopy in week 20 and processed for light and electron microscopy. All samples revealed complete absence of all skin appendages in contrast to a total of 61 non-AED fetuses. Thus positive prenatal diagnosis of AED was made and the pregnancy was terminated. Control investigations after abortion confirmed the diagnosis.
本文报道了通过胎儿镜检查获取胎儿皮肤活检组织，利用光镜和电镜成功进行X连锁无汗性外胚层发育不良（AED）的产前诊断。在这个家系中，先证者的两个兄弟患有严重的AED全部症状，而孕妇及其母亲表现出轻微症状，有小片皮肤无毛发生长。对患病家庭成员的病变皮肤进行电镜检查未发现超微结构异常。然而，所有活检组织均缺乏包括毛囊、皮脂腺和汗腺在内的皮肤附属器。缺乏毛皮脂腺毛囊可作为诊断标准，因为这些结构在20周的正常胎儿中已完全发育，而汗腺的发育在胎儿期20至24周之前尚未开始。在第20周通过胎儿镜从有患病风险的胎儿的不同部位采集皮肤活检组织，并进行光镜和电镜处理。与总共61例非AED胎儿相比，所有样本均显示完全缺乏所有皮肤附属器。因此，做出了AED的产前阳性诊断，并终止了妊娠。流产后的对照检查证实了诊断。
