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  • Title: [Prenatal diagnosis of hereditary bullous epidermolysis. A case report].
    Author: Aubard Y, Genet C, Bedane C, Gilbert B.
    Journal: J Gynecol Obstet Biol Reprod (Paris); 1996; 25(6):588-93. PubMed ID: 8964956.
    Abstract:
    A premature infant born to a consanguinous couple (mother's age = 27 years) presented Hallopeau-Siemens disease and died at 3 weeks. At a second pregnancy, fetal skin biopsies at 21 weeks gestation demonstrated the absence of the disease. The fetus died in utero at 31 weeks of an unknown cause. A third pregnancy was carried to term successfully and terminated by delivery of a normal infant. Unlike most hereditary bullous epidermolyses, the severe prognosis of Hallopeau-Siemens disease justifies antenatal diagnosis as does Herlitz disease, another familial disease. Fetal skin biopsy at 21 weeks is classically performed, but localization of the genetic abnormalities would suggest that a simple trophoblast biopsy during the first trimester may be sufficient.
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