Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods.
Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. Beta-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10--30 freeze-dried cells. The latter method requires only a few hundred cells growing in one or more clones and will usually allow a diagnosis within 9--12 days after amniocentesis.
D000649:Amniocentesis; D005260:Female; D005696:Galactosidases / Q000032:analysis*; D005733:Gangliosidoses / Q000175:diagnosis*; D006801:Humans; D008832:Microchemistry / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005696:Galactosidases