In the last 6 years, prenatal diagnosis of some severe genodermatoses has been obtained by fetal skin biopsy at 18-22 weeks' gestation by electron microscopy and immunofluorescence. We summarize our experience on prenatal diagnosis in 12 pregnancies at risk for severe genodermatoses. This technique has been performed in 8 pregnancies at risk for epidermolysis bullosa (4 for junctional type with pyloric atresia, 4 for recessive dystrophic type), 2 at risk for ichthyosis congenita, 1 for harlequin baby, 1 for anhidrotic ectodermal dysplasia. Four fetuses resulted affected: one was affected by junctional epidermolysis bullosa and 3 by recessive dystrophic epidermolysis bullosa. No injuries to mother or fetuses occurred, and only few minimal cosmetic consequences have been observed in healthy babies. Our experience confirms the safety and reliability of this technique. The limit of a delayed gestational age will be eliminated in the next future by DNA-based prenatal diagnosis, that may be performed in first trimester. The diagnostic criteria and the technical problems for a correct interpretation of the results about the prenatal diagnosis of epidermolyses bullosa, keratinization disorders and anhidrotic ectodermal dysplasia are discussed.
|Translated title of the contribution||Prenatal diagnosis by fetal skin biopsy. Experience of 12 cases|
|Number of pages||8|
|Journal||Giornale Italiano di Dermatologia e Venereologia|
|Publication status||Published - 1994|
ASJC Scopus subject areas