First trimester diagnosis of cystinosis using intact chorionic villi.
Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts.
D001345:Autoradiography; D002824:Chorionic Villi / Q000032:analysis*; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013462:Sulfur Radioisotopes
D013462:Sulfur Radioisotopes; D003553:Cystine