Biochemical Examination of Fetal Skin Biopsy Specimens Obtained by Fetoscopy: Use of the Method for Analysis of Keratins and Filaggrin

This study described a method for the biochemical analysis of proteins from fetal skin biopsy samples, which was rapid, sensitive, and required only a 1 mm biopsy. The method involved extracting proteins from fetal skin biopsies, separating them by SDS-polyacrylamide gel electrophoresis, and using monoclonal antibodies to immunostain for keratins and filaggrin. The study included biopsies from normal fetuses and a fetus at risk for lamellar ichthyosis. All samples showed keratins typical of fetal epidermis at 20 weeks gestation, with variable presence of filaggrin. No keratin abnormalities were found in the fetus at risk for lamellar ichthyosis, but one normal biopsy showed an abnormally low proportion of 67 kd keratin and presence of follicular keratins. The results demonstrated the potential of this method for diagnosing disorders with known protein abnormalities in utero.