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The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
November 1974,
Orvosi hetilap,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
January 1987,
Journal belge de radiologie,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
March 1970,
American journal of diseases of children (1960),
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
February 1975,
Orvosi hetilap,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
January 1985,
Journal of inherited metabolic disease,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
August 1983,
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
October 1999,
Archives of pediatrics & adolescent medicine,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
July 1985,
Acta paediatrica Scandinavica,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
January 2007,
Neurology India,
G I Solish, and
H W Moser, and
L D Ringer, and
A E Moser, and
C Tiffany, and
E Schutta
January 1985,
Prenatal diagnosis,
