Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
Two consecutive pregnancies at risk for Tay-Sachs disease with heat-labile beta-hexosaminidase B were monitored. Differential isozyme detection of beta-hexosaminidase in cell free amniotic fluid by DEAE cellulose column chromatography and cellulose acetate paper electrophoresis showed an affected fetus in the first pregnancy and an unaffected in the second. These results were confirmed in the aborted fetus and in a newborn baby, respectively.
D000653:Amniotic Fluid / Q000201:enzymology*; D004796:Clinical Enzyme Tests; D004355:Drug Stability; D005260:Female; D006596:Hexosaminidases / Q000032:analysis*; D006358:Hot Temperature; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes / Q000032:analysis*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012306:Risk; D013661:Tay-Sachs Disease / Q000175:diagnosis*; D001619:beta-N-Acetylhexosaminidases
D007527:Isoenzymes; D006596:Hexosaminidases; D001619:beta-N-Acetylhexosaminidases