title: Antenatal detection of genetic enzyme defects.
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D000649:Amniocentesis; D000650:Amnion; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology*; D046508:Culture Techniques; D003554:Cystinosis / Q000175:diagnosis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005693:Galactosemias / Q000175:diagnosis; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008064:Lipidoses / Q000175:diagnosis; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D011247:Pregnancy; D011677:Punctures