“Blind” versus direct vision technique for fetal skin sampling in cases for prenatal diagnosis

Abstract
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 2-cannula technique (1 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, 8-10 biopsy specimens had to be taken to ensure that enough skin material would be available for the microscopic examination; only 1 specimen out of every 2 was found to consist of skin; the remainder comprised fetal membranes, myometrium, or trophoblast. In one case where the blind procedure was used, leakage of amniotic fluid occurred and labor started in the 33rd wk. With the 2-cannula technique, the number of biopsy samples could be confined to 2 or 3, and all proved to be of skin.