The association of congenital skin disorders with acetylcholinesterase in amniotic fluid

Abstract
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 acetyl‐cholinesterase. 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.