Prenatal diagnosis of cystinosis.
Cystinosis was diagnosed in a small quantity of cultured amniotic cells from a 22-week-old fetus by a modified pulse-labeling technique in which intracellular 35SL-cystine retention was measured. As a result of the above finding, the pregnancy was terminated by administration of prostaglandin. The diagnosis was confirmed when the nonprotein-free cystine content of the kidney, liver, placenta, spleen, thymus, and gut, as well as that of a large amount of cultured amniotic cells, was found to be 100-fold higher than normal levels.
D000028:Abortion, Induced; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005333:Fetus / Q000032:analysis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011453:Prostaglandins / Q000627:therapeutic use; D013462:Sulfur Radioisotopes
D011453:Prostaglandins; D013462:Sulfur Radioisotopes; D003553:Cystine