A family with combined Farber and Sandhoff,isolated Sandhoff and isolated fetal Farber disease: postnatal exclusion and prenatal diagnosis of Farber disease using lipid loading tests on intact cultured cells

Abstract An earlier described patient with combined sphingolipidoses, Farber and Sandhoff disease, had two healthy older brothers and two further sibs, one with Sandhoff disease and one (a fetus) with Farber disease, showing segregation of the respective genes. The prenatal diagnosis in the latter was performed using lipid (sphingomyelin and glucosylceramide) loading tests on the cultured amniotic fluid cells. After 1–3 days of incubation the cells' lipid extract revealed radioactive ceramide to be released and highly accumulated. The deficiency in acid ceramidase was known from the patient with the combined diseases. Confirmation of the prenatal Farber diagnosis was done by similar loading tests on the fetal fibroblasts and by analysis of liver lipids of the less than 18-week-old fetus.Conclusion This is the first report on the use of lipid loading tests on intact cultured cells for prenatal diagnosis of Farber disease. The postnatal diagnosis of Farber disease can also be readily made using those tests, as was shown in four further cases.