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More about Tay-Sachs Disease:
Definition Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources |
Prevention involves identifying carriers of the disease and providing them with appropriate information concerning the chance of their offspring having Tay-Sachs disease. When the levels of hexosaminidase A are half the normal level, a person is a carrier of the defective gene. Blood tests of carriers reveals reduction of hexosaminidase A.
When a woman is already pregnant, tests can be performed on either the cells of the baby (aminocentesis) or the placenta (chorionic villus sampling) to determine whether the baby will have Tay-Sachs disease.
— Laith Farid Gulli, MD
