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. 1988 Feb;8(2):151-5.
doi: 10.1002/pd.1970080209.

Prenatal diagnosis of galactosialidosis

A C Sewell  1 , B F Pontz
Affiliations

Prenatal diagnosis of galactosialidosis

A C Sewell et al. Prenat Diagn. 1988 Feb.

Abstract

The second prenatal diagnosis of galactosialidosis is reported. Neuraminidase and beta-galactosidase activities in cultured amniotic cells were deficient, this being confirmed by skin fibroblast enzyme assay on the affected fetus after interruption of the pregnancy. Cultured placental cells demonstrated the same enzyme deficiencies. Analysis of deproteinized amniotic fluid showed the presence of abnormal oligosaccharides specific for alpha-neuraminidase deficiency.

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