DIAGNOSI PRENATALE MEDIANTE BIOPSIA CUTANEA FETALE. ESPERIENZA DI 12 CASI

Translated title of the contribution: Prenatal diagnosis by fetal skin biopsy. Experience of 12 cases

A. Brusasco, U. Nicolini, R. Cavalli, R. Fogliani, L. Gallo, E. Berti, R. Caputo

Research output: Contribution to journalArticle

Abstract

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.

Original languageItalian
Pages (from-to)135-142
Number of pages8
JournalGiornale Italiano di Dermatologia e Venereologia
Volume129
Issue number4
Publication statusPublished - 1994

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Prenatal Diagnosis
Biopsy
Skin
Pregnancy
Fetus
Anhidrotic Ectodermal Dysplasia 1
Junctional Epidermolysis Bullosa
Lamellar Ichthyosis
Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa
Ectodermal Dysplasia
First Pregnancy Trimester
Cosmetics
Gestational Age
Fluorescent Antibody Technique
Electron Microscopy
Safety
DNA
Wounds and Injuries

ASJC Scopus subject areas

  • Dermatology

Cite this

DIAGNOSI PRENATALE MEDIANTE BIOPSIA CUTANEA FETALE. ESPERIENZA DI 12 CASI. / Brusasco, A.; Nicolini, U.; Cavalli, R.; Fogliani, R.; Gallo, L.; Berti, E.; Caputo, R.

In: Giornale Italiano di Dermatologia e Venereologia, Vol. 129, No. 4, 1994, p. 135-142.

Research output: Contribution to journalArticle

Brusasco, A, Nicolini, U, Cavalli, R, Fogliani, R, Gallo, L, Berti, E & Caputo, R 1994, 'DIAGNOSI PRENATALE MEDIANTE BIOPSIA CUTANEA FETALE. ESPERIENZA DI 12 CASI', Giornale Italiano di Dermatologia e Venereologia, vol. 129, no. 4, pp. 135-142.
Brusasco, A. ; Nicolini, U. ; Cavalli, R. ; Fogliani, R. ; Gallo, L. ; Berti, E. ; Caputo, R. / DIAGNOSI PRENATALE MEDIANTE BIOPSIA CUTANEA FETALE. ESPERIENZA DI 12 CASI. In: Giornale Italiano di Dermatologia e Venereologia. 1994 ; Vol. 129, No. 4. pp. 135-142.
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