Acetylcholinesterase and butyrylcholinesterase measurement in the pre-natal detection of neural tube defects and other fetal malformations

Acetylcholinesterase activity in amniotic fluid was measured at 30 degree C by a reaction rate method employing acetyl-beta-methyl thiocholine as substrate and ethopropazine as a selective inhibitor of butyrylcholinesterase. This assay proved more specific than previously reported methods. Activity was greater in five cases of anencephaly (4.8-9.7 U/l) and nine cases of spinal bifida (5.1-8.6 U/l) than in 50 pregnancies with normal outcome (mean activity 2.0 +/- 0.9 (S.D.) U/l). There was no overlap between results from normal and neural-tube-defect groups, and the results showed no significant correlation with gestational age. Butyrylcholinesterase activity in amniotic fluid was measured using butyrylthiocholine as substrate. In accordance with previous reports, levels were elevated in pregnancies affected by neural tube defects. The ratio butyrylcholinesterase/acetylcholinesterase activity showed similar values for anencephalic, spina bifida and normal pregnancies; however, the two cases of exomphalos investigated could be clearly distinguished from all other groups on this basis.