Neural tube defect-specific acetylcholinesterase: its properties and quantitation in the detection of anencephaly and spina bifida.

Amniotic fluid from neural tube defect-affected pregnancies (NTD) contains three forms of acetylcholinesterase (AChE), the major species of which is present only in trace amounts in normal pregnancies or those associated with a non-NTD fetal malformation. The activity of this 'specific' AChE is increased 62-fold in the presence of NTD and its measurement provides a sensitive and specific test for the biochemical detection of this disorder. The sedimentation coefficient of 'NTD specific' AChE (10.3S) indicates that it is a tetrameric species, and that the two additional forms present, (4.0S and 5.5S) are monomer and dimer, respectively. Gel filtration studies also support these findings. Combining these data, the molecular masses of monomer, dimer and tetramer are shown to be 78, 126 and 256 kDa (+/- 10%). 'NTD-Specific' AChE does not react with the detergent Triton X-100, indicating that it is a soluble, and probably secreted, species without membrane associating properties.