"Blind" versus direct vision technique for fetal skin sampling in cases for prenatal diagnosis.
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.
D001706:Biopsy / Q000379:methods*; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000473:pathology; D005332:Fetoscopy / Q000379:methods*; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012867:Skin / Q000473:pathology; D012872:Skin Diseases, Vesiculobullous / Q000175:diagnosis* / Q000473:pathology