Krabbe's disease: first trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues.
Chorionic villi obtained during the first trimester from a pregnancy at risk for Krabbe's disease were shown to have reduced cerebroside-beta-galactosidase (E.C.3.2.1.46) activity using the artificial substrate trinitrophenylaminolauryl galactocerebroside (TNPAL-galactocerebroside). Assay of this enzyme in cultured amniotic fluid cells following amniocentesis, performed at the patient's request confirmed the diagnosis. Termination of pregnancy was performed and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of Krabbe's disease, thus confirming that chorionic villi can be used for first trimester diagnosis of this condition.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology*; D005260:Female; D005698:Galactosylceramidase / Q000172:deficiency; D005699:Galactosylceramides; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005699:Galactosylceramides; D005698:Galactosylceramidase