title: Prenatal molecular diagnosis of Gaucher disease.
abstract: 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.
authors: Gaucher Clinic, Shaare-Zedek Medical Center, Jerusalem, Israel.
authors: A
authors: A
authors: Zimran
authors: D
authors: D
authors: Elstein
authors: A
authors: A
authors: Abrahamov
authors: W
authors: W
authors: Kuhl
authors: K H
authors: KH
authors: Brown
authors: E
authors: E
authors: Beutler
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004200:Diseases in Twins; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis