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Prenatal diagnosis of genetic skin disease by fetoscopy and electron microscopy: report on 5 years' experience
Author(s) -
Eady R.A.J.,
Gunner D.B.,
Tidman M.J.,
Heagerty A.H.M.,
Nicolaides K.H.,
Rodeck C.H.
Publication year - 1985
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1985.tb13015.x
Subject(s) - fetoscopy , medicine , prenatal diagnosis , pregnancy , biology , fetus , genetics
Since our first report 5 years ago (Rodeck, Eady & Gosden, 1980) the combination of fetoscopy and electron microscopy to obtain and examine fetal skin biopsy specimens has become an established method for assessing mid‐trimester fetuses at risk for different genodermatoses characterized by specific ultrastructural abnormalities. Our present report concerns 39 fetuses ( Table). TABLE Skin biopsy examination of 39 fetusesRisk No. examined No. affectedJunctional EB*† 21 6 Dystrophic EB 6 1 Bullous ichthyosis 2 1 Lamellar ichthyosis 2 0 Harlequin ichthyosis 2 0 Oculocutaneous albinism 4 2 Ectodermal dysplasia 1 0 Neu‐Laxova syndrome 1 0*Epidermolysis bullosa. †Includes one twin pregnancySkin biopsies are taken at 18–21 weeks gestation under direct vision with real‐time ultrasound guidance. Usually a minimum of three samples is examined. Biopsies are taken from the limbs and trunk (for epidermolysis bullosa or ichthyosis) or from the scalp or eyebrows (for albinism). Biopsy scars are inconspicuous or very small and have never been a problem. There has been no fetal loss as a direct result of the procedure. We feel that this technique of prenatal diagnosis is now sufficiently well‐tried to be offered as a service in the management of certain genetic skin diseases.