Antenatal diagnosis of metabolic disorders.
Reliable techniques for the antenatal diagnosis of many inherited metabolic disorders have recently been developed. There is little doubt that the list of disorders detectable in utero will continue to expand rapidly with our knowledge of the biochemical basis of inherited disease. New antenatal diagnostic methods will be developed and existing procedures will become safer, more accurate and more readily available. These changes will undoubtedly be accompanied by new developments in the antenatal diagnosis of other types of disorders, including chromosomal abnormalities and congenital malformations as discussed in other chapters in this issue. Such developments in the prevention of genetic disease will enable us to offer additional options to our patients and families affected with these often devastating disorders.
D000596:Amino Acids / Q000032:analysis; D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology / Q000648:ultrastructure; D002470:Cell Survival; D002474:Cell-Free System; D002478:Cells, Cultured; D004798:Enzymes / Q000032:analysis / Q000172:deficiency; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D008040:Genetic Linkage; D006025:Glycosaminoglycans / Q000032:analysis; D006453:Hemoglobinopathies / Q000097:blood; D006728:Hormones / Q000032:analysis; D006801:Humans; D008247:Lysosomes / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000596:Amino Acids; D004798:Enzymes; D006025:Glycosaminoglycans; D006728:Hormones