Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome

Abstract

Background: The pyloric atresia--junctional epidermolysis bullosa (PA-JEB) syndrome is an autosomal recessive disorder with a poor prognosis. Electron microscopy of fetal skin has been the only reliable method for prenatal diagnosis.

Objective: The purpose of this study was to make the prenatal diagnosis of PA-JEB syndrome with a more reliable method by means of immunocytochemical probes.

Methods: Expression of a range of basement membrane antigens was examined in different types of JEB. On the basis of the results, a fetal skin biopsy specimen was obtained for prenatal diagnosis.

Results: In PA-JEB syndrome (n = 2), GB3 antigen (BM600) was normally expressed; the 19-DEJ-1 antigen was completely absent. In fetal skin at risk for PA-JEB syndrome, the 19-DEJ-1 antigen was normally expressed, and no ultrastructural abnormality was found by electron microscopy. A normal male infant was delivered at 38 weeks of pregnancy.

Conclusion: 19-DEJ-1 monoclonal antibody serves as a useful probe for the prenatal diagnosis of PA-JEB syndrome.