Prenatal diagnosis of neural tube defects using the cholinesterases.

Abstract

The usefulness of a cholinesterase assay and electrophoresis in the prenatal diagnosis of neural tube defects was investigated in amniotic fluids from 1,512 women. The assay used a alpha-naphthyl acetate as substrate and measured the combined activity of the enzymes acetylcholinesterase (AChE, E.C. 3.1.1.7) and cholinesterase (ChE, E.C. 3.1.1.8); the activity of both enzymes was raised in amniotic fluid from women carrying open NTDs. The alpha-naphthyl acetate assay distinguished fetuses with neural tube defects from normal fetuses more effectively than assays using acetylthiocholine as substate. A perfect score could be obtained on the sample tested when both enzyme assay and electrophoresis were done on those samples with activity greater than or equal to 4 mU. There was no correlation between gestational age between 13-21 weeks and activity of AChE + ChE (r = 0.03). The electrophoretic band of AChE activity proved to be a valuable diagnostic adjunct to both AFP or the AChE + ChE assay. A similar band or AChE activity was seen in adult brain and intestine but not in kidney, heart, liver, or lung, or in sera from women carrying normal or NTD fetuses.

• Authors: N E Simpson
• Journal: Isozymes (Isozymes Curr Top Biol Med Res) Vol. 11 Pg. 37-49 ( 1983) ISSN: 0160-3787 [Print] United States
• PMID: 6642992 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cholinesterases

Topics

• Amniotic Fluid (enzymology)
• Cholinesterases (metabolism)
• Clinical Enzyme Tests
• Diagnostic Errors
• Female
• Gestational Age
• Humans
• Neural Tube Defects (diagnosis)
• Pregnancy
• Prenatal Diagnosis
• Substrate Specificity