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Prenatal diagnosis of Gaucher disease Assay of the ß‐glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions

Sixteen pregnancies at risk for Gaucher disease ‐ six with the Norrbottnian form, one with a juvenile form with a similar clinical course to the patients from Norrbotten and nine with the infantile form ‐ have been monitored by the assay of β‐glucosidase activity in cultivated amniotic fluid cells with natural labelled glycosylceramide as substrate. Two methods of cultivation were compared in respect of their effect on the activity of lysosomal enzymes. No significant difference was found between the two marker enzymes, β‐galactosidase and N‐acetyl‐β‐glucosaminidase, but the β‐glucosidase activity was significantly higher in the cells cultivated with one of the methods. In four of the pregnancies at risk, the β‐glucosidase activity in the cultivated amniotic fluid cells was less than 5 % of that in the two control materials. These fetuses were regarded as affected with Gaucher disease and were aborted. Differentiation between controls and Gaucher heterozygotes was not possible in cultivated amniotic fluid cells. The diagnosis of Gaucher disease in the amniotic fluid cells was confirmed in three of the four cases by the assay of the β‐glucosidase activity in the liver and brain of the aborted fetuses. The glucosylceramide content of the liver from two aborted fetuses was not augmented. The β‐glucosidase activity was examined in seven placentas from pregnancies at risk for Gaucher disease and found to be in agreement with that in the cultivated amniotic fluid cells.