Prenatal Diagnosis and Fetal Pathology of Niemann-Pick Disease

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Abstract
Prenatal diagnosis was successfully accomplished by determining sphingomyelinase activity in the cultured amniotic fluid cells in a case of high risk pregnancy for Niemann-Pick disease (NPD), type A. No detectable activity of sphingomyelinase was found in the cultured amniotic fluid cells obtained at the 17th wk of gestation. Patient''s pregnancy was terminated, and the aborted fetus apparently was affected with NPD. Liver, brain and skin fibroblasts from the aborted fetus revealed a markedly diminished activity of sphingomyelinase. Sphingomyelin content in the liver of the affected fetus apparently increased approximately 7-fold as compared with that in a control fetus liver. There was no increase of sphingomyelin in the brain from the affected fetus. No significant increase in cholesterol content was found in the liver and brain from the affected fetus. EM findings revealed membranous cytoplasmic bodies and electron dense material with vacuoles in cytoplasm of the liver cell and a number of zebra body-like inclusions in the cerebral vessel wall. Biochemical and histological findings of the NPD fetus indicate that there is the progress of the disorder already in the midtrimester of gestation.

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