Löfberg L, Gustavii B
Clin Genet. 1984 Jan;25(1):37-41. doi: 10.1111/j.1399-0004.1984.tb00460.x.
Seven fetuses at risk of developing a serious inherited skin disorder (epidermolysis bullosa atrophicans generalisata gravis in 4, bullous ichthyosiform erythroderma in 2, and non-bullous ichthyosiform erythroderma in 1) were subjected to prenatal diagnosis by fetal skin sampling. The conventional "blind" biopsy procedure was used in the first 3 cases; a two-cannula technique (one cannula for the optic instrument and the other for the biopsy forceps) that permits biopsy of the skin under direct vision, was employed in the remaining 4 cases. With the "blind" technique, 8 to 10 biopsy specimens had to be taken to ensure that enough skin material would be available for the microscopic examination; only one specimen out of every two was found to consist of skin; the remainder comprised fetal membranes, myometrium, or trophoblast. In one case where the "blind" procedure has been used, leakage of amniotic fluid occurred and labor started in the 33rd week. With the two-cannula technique, the number of biopsy samples could be confined to two or three, and all proved to be of skin.
七名有患严重遗传性皮肤病风险的胎儿（4例为泛发性萎缩性大疱性表皮松解症严重型，2例为大疱性鱼鳞病样红皮病，1例为非大疱性鱼鳞病样红皮病）接受了经胎儿皮肤取样的产前诊断。前3例采用传统的“盲目”活检方法；其余4例采用双套管技术（一个套管用于光学仪器，另一个用于活检钳），该技术可在直视下对皮肤进行活检。采用“盲目”技术时，必须采集8至10个活检标本，以确保有足够的皮肤材料用于显微镜检查；每两个标本中只有一个被发现是皮肤组织；其余的包括胎膜、子宫肌层或滋养层。在使用“盲目”方法的一例中，发生了羊水渗漏，孕妇在第33周开始分娩。采用双套管技术时，活检样本数量可限制为两三个，且所有样本均为皮肤组织。
