Prenatal Diagnosis of Tay-Sachs Disease

Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus

“…We have been able to show that the liver and other tissues presented appearances analogous to those found in affected children at considerably later stages of the disease. (Schneck et al, 1970). It is notable that in this 18-week fetus the cells of the central nervous system showed no sign of inclusions (Fig.…”

Early Evolution Of Cytoplasmic Inclusion Bodies in Tay-Sachs Disease

“…The study was performed on brain and liver of a 21-week-old aborted embryo prenatally diagnosed as TSD (6) and that of a 14-week-old Tay-Sachs infant. Amniocentesis was done on a woman who previously had a Tay-Sachs child.…”

Investigation of degenerative disease of the central nervous system.

“…This technique has obvious application in prenatal diagnosis and allows 'positive' genetic counselling in a steadily increasing number of conditions, of which one might quote Tay-Sachs disease (Schneck et al, 1970) and metachromatic leucodystrophy (Porter et al, 1970).…”