Prenatal diagnosis of hereditary bullous epidermolysis. A case report
Aubard, Y.; Genet, C.; Bedane, C.; Gilbert, B.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction 25(6): 588-593
1996
ISSN/ISBN: 0368-2315 PMID: 8964956 Document Number: 462422
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.