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

doi:10.1016/S0140-6736(79)92562-5

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

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 language	English (US)
Pages (from-to)	990-992
Number of pages	3
Journal	The Lancet
Volume	314
Issue number	8150
DOIs	https://doi.org/10.1016/S0140-6736(79)92562-5
State	Published - Nov 10 1979

ASJC Scopus subject areas

General Medicine

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title = "PRENATAL DIAGNOSIS OF FARBER'S DISEASE",

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.",

author = "Fensom, {A. H.} and Neville, {B. R.G.} and Moser, {Ann E.} and Benson, {P. F.} and Moser, {H. W.} and Dulaney, {J. T.}",

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T1 - PRENATAL DIAGNOSIS OF FARBER'S DISEASE

AU - Fensom, A. H.

AU - Neville, B. R.G.

AU - Moser, Ann E.

AU - Benson, P. F.

AU - Moser, H. W.

AU - Dulaney, J. T.

PY - 1979/11/10

Y1 - 1979/11/10

N2 - 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.

AB - 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.

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PRENATAL DIAGNOSIS OF FARBER'S DISEASE

Abstract

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