PRENATAL DIAGNOSIS OF FARBER'S DISEASE

A. H. Fensom, B. R.G. Neville, Ann E. Moser, P. F. Benson, H. W. Moser, J. T. Dulaney

Research output: Contribution to journalArticlepeer-review

Abstract

Two pregnancies at risk for Farber's disease were monitored with amniocentesis at 15 and 16 weeks' gestation. In the first pregnancy tested, cultured amniotic-cell ceramidase activity was 7·8% of the control mean and an affected fetus was predicted. The pregnancy was terminated at 22 weeks' gestation and the diagnosis was confirmed by the demonstration of considerably elevated renal and hepatic ceramide concentrations and severe reduction of ceramidase activity in fetal brain and cultured fibroblasts. In the second pregnancy tested, cultured amniotic-cell ceramidase activity was within the control range, and the prediction of an unaffected fetus was confirmed in the newborn.

Original languageEnglish (US)
Pages (from-to)990-992
Number of pages3
JournalThe Lancet
Volume314
Issue number8150
DOIs
StatePublished - Nov 10 1979

ASJC Scopus subject areas

  • Medicine(all)

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