Prenatal diagnosis of skin disorders

Prenatal diagnosis of inherited diseases has hitherto been obtained mainly by cytogenetic or biochemical analysis of cultured amnion cells. Xeroderma pigmentosum, Fabry's disease and x-linked ichthyosis can be diagnosed in this way. Recently, techniques for taking fetal blood or skin samples by fetoscopy in the 16th to 20th week of gestation have been developed. Epidermolysis bullosa lethalis and ichthyotic erythroderma have thus been diagnosed on fetal skin samples.