Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid.

Measurement of hexosaminidase A activity in amniotic fluid was found to be a reliable diagnostic test in the prenatal diagnosis of Tay-Sachs disease. Including normal control specimens, analysis of 39 amniotic fluid samples have correctly predicted the condition of the fetus or, in pregnancies not yet come to term, have been in agreement with results from cultured cell extracts. In each case where both fluid and cultured cell extracts were analyzed, the results were in agreement. Analysis were performed by means of Cellogel, starch gel electrophoresis, polyacrylamide gel electrophoresis, or heat inactivation.