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The association of congenital skin disorders with acetylcholinesterase in amniotic fluid |
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| Authors: | D P Bick E A Balkite MS A Baumgarten J C Hobbins M J Mahoney MD |
| Institution: | 1. Departments of Human Genetics, Laboratory Medicine, and Obstetrics and Gynecology Yale University School of Medicine, New Haven, Connecticut;2. Department of Pediatrics, Norwalk Hospital, Norwalk, Connecticut |
| 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. |
| Keywords: | Amniotic fluid acetylcholinesterase Amniotic fluid alpha-fetoprotein Fetal ultrasound Epidermolysis bullosa Aplasia cutis congenita |