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Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant
Author(s) -
Shulman Lee P.,
Elias Sherman,
Andersen Richard N.,
Phillips Owen P.,
Milunsky Aubrey,
Holbrook Karen A.,
Smith Lynne T.,
Fine JoDavid,
Simpson Joe Leigh
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970111102
Subject(s) - junctional epidermolysis bullosa (veterinary medicine) , fetus , amniotic fluid , medicine , epidermolysis bullosa , acetylcholinesterase , prenatal diagnosis , pathology , hemidesmosome , anatomy , pregnancy , biology , basement membrane , extracellular matrix , genetics , laminin , enzyme , biochemistry
Junctional epidermolysis bullosa, Herlitz variant (junctional EB‐Herlitz) is a lethal autosomal recessive skin disorder currently amenable to prenatal diagnosis only by direct analysis of fetal skin. However, elevated levels of alpha‐fetoprotein, as well as the presence of acetylcholinesterase in amniotic fluid, have been associated with other severe fetal genodermatoses. Fetal skin samplings were performed in ten pregnancies at risk for fetal junctional EB‐Herlitz, with three fetuses affected on the basis of electron microscopic detection of blisters within the lamina lucida and abnormal hemidesmosomes. In neither affected nor unaffected pregnancies were maternal serum or amniotic fluid alpha‐fetoprotein levels elevated. Moreover, alphafetoprotein levels in both maternal serum and amniotic fluid were not statistically different comparing affected and unaffected fetuses. Acetylcholinesterase was not present in the amniotic fluid samples of the three affected pregnancies. Unlike other severe fetal genodermatoses, neither alpha‐fetoprotein nor acetylcholinesterase was predictive of junctional EB‐Herlitz.