Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope

Objective: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. Materials and Methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. Results: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). Conclusion: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis. Copyright (C) 2000 S. Karger AG, Basel.