The antenatal diagnosis of all nine known sphingolipid storage diseases is feasible at the present time. To ensure maximum reliability for such important determinations, radiolabeled lipids should be used for detecting fetuses with Niemann-Pick disease, Krabbe's disease, and ceramide lactoside lipidosis. Various artificial substrates may be used with confidence to detect metachromatic leukodystrophy, Fabry's disease, the classic and variant forms of Tay-Sachs disease, and Gaucher's disease.
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Roscoe O. Brady (1970) studied this question.