PRENATAL-DIAGNOSIS OF GENODERMATOSES

The rapid development of techniques available for fetal examination an d tissue sampling, coupled with novel methods for enzymological, cytog enetic and DNA analysis has enabled the intrauterine detection of feta l skin disorders to become an integral part of the management of sever al genetic skin diseases. The relevance of new prenatal diagnostic met hods to genetic diseases with major cutaneous manifestations is still largely limited to the detection of structural abnormalities in fetal skin biopsies (epidermolysis bullosa, keratinization disorders, pigmen tation disorders). But the enormous advances in molecular biology of t he epidermolysis bullosa group and the epidermolytic hyperkeratosis wi ll soon allow identification of affected fetuses and possibly carriers .