Abstract
The heat denaturation method for N-acetyl-β-d-hexosaminidase A (Hex A) should be used solely for Tay-Sachs disease (TSD) carrier detection of the Ashkenazi Jewish population. All suspected carriers, pregnant women, and persons with debilitating disorders ought to be rechecked, with the use of leukocyte preparations for the Hex A assay, with both heat denaturation and electrophoretic methods. The antenatal diagnosis of TSD should be based on the complete absence of Hex A in amniotic fluid and cultured amniotic cells as determined by procedures which separate Hex A from its isoenzymes, e.g., electrophoresis. When time is a factor, as in advanced pregnancy or when cultures fail to grow, such electrophoretic methods yield Hex A values for amniotic fluid itself which are in concordance with those found for cultured amniotic cells.
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