Premium
Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha‐fetoprotein
Author(s) -
Bass Harold N.,
Miranda Cheryl,
Oei Rudolph,
Crandall Barbara F.
Publication year - 1993
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.1970130108
Subject(s) - amniotic fluid , medicine , epidermolysis bullosa , alpha (finance) , pathology , acetylcholinesterase , fetus , pregnancy , biology , enzyme , surgery , genetics , construct validity , biochemistry , patient satisfaction
A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid‐trimester serum and amniotic fluid alpha‐fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha‐fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.