[Prenatal diagnosis of metabolic abnormalities in cell cultures (author's transl)].
About 40 of the genetically induced metabolic defects in humans which are known today can be diagnosed prenatally. The diagnosis of some diseases is possible from the amnionic liquor itself or from uncultivated amnion cells. But in many cases it is necessary to perform the tests for prenatal diagnosis of a biochemical defect with cultivated amnion cells. Of the numerous test procedures, 4 methods, different in principle, will be described here. They all permit a reliable prenatal diagnosis with a minimum of time and cell material.
D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology*; D001345:Autoradiography; D002245:Carbon Dioxide / Q000032:analysis; D002250:Carbon Radioisotopes; D002460:Cell Line; D002478:Cells, Cultured; D003470:Culture Media; D003581:Cytodiagnosis / Q000379:methods; D005260:Female; D005347:Fibroblasts; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013455:Sulfur / Q000378:metabolism
D002250:Carbon Radioisotopes; D003470:Culture Media; D002245:Carbon Dioxide; D013455:Sulfur; D005690:Galactose
Pränatale Diagnose von Stoffwechselanomalien in Zellkulturen