Antenatal diagnosis of genodermatoses.
The technics of fetoscopy and fetal skin biopsy have expanded our capabilities for antenatal diagnosis of certain hereditary skin disorders (genodermatoses). The fetus and placenta can be visualized directly and skin biopsy specimens can be obtained for light and electron microscopic studies, tissue culture, and biochemical analysis. These technics have been utilized successfully in the prenatal diagnosis or exclusion of epidermolysis bullosa, epidermolytic hyperkeratosis, and harlequin ichthyosis in fetuses known to be at risk for these disorders, and they offer tremendous potential for prenatal diagnosis in a variety of other genodermatoses. Studies of tissue obtained by this procedure will undoubtedly expand our knowledge of the morphogenesis and biochemistry of fetal skin and will provide needed baseline data for the further development of these technics.
D001707:Biopsy, Needle / Q000379:methods; D005260:Female; D020669:Fetoscopes; D005332:Fetoscopy / Q000009:adverse effects / Q000379:methods*; D005333:Fetus / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*