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Prenatal molecular diagnosis of gaucher disease
Author(s) -
Zimran A.,
Elstein D.,
Abrahamgv A.,
Kuhl W.,
Brown K. H.,
Beutler E.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970151219
Subject(s) - prenatal diagnosis , amniocentesis , disease , genotype , proband , glucocerebrosidase , medicine , chorionic villi , fetus , pregnancy , cell free fetal dna , pathology , mutation , biology , genetics , gene
Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available.