The association of congenital skin disorders with acetylcholinesterase in amniotic fluid.
We describe a fetus with epidermolysis bullosa dystrophica and a fetus with aplasia cutis congenita who were normal by careful ultrasound examination but whose midtrimester amniotic fluids exhibited elevated concentrations of alpha-fetoprotein and presence of acetylcholinesterase. These cases show that serious fetal skin pathology can be a source of amniotic fluid acetylcholinesterase and elevated alpha-fetoprotein concentration and should be considered as part of the differential diagnosis of these amniotic fluid findings.
D000110:Acetylcholinesterase / Q000378:metabolism*; D000328:Adult; D000653:Amniotic Fluid / Q000201:enzymology*; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000509:alpha-Fetoproteins / Q000378:metabolism
D000509:alpha-Fetoproteins; D000110:Acetylcholinesterase