title: A review of intra-uterine diagnosis of genetic disorders.
abstract: In this review the different methods of antenatal detection of congenital abnormalities are briefly outlined. Modern techniques developed in recent years for the diagnosis of genetic disorders by studying the amniotic fluid are considered in detail. The technique of amniocentesis, its indications, complications and the methods of investigation of amniotic fluid are discussed. The indications for chromosomal analysis of amniotic fluid cells for detecting fetal abnormalities and possible pitfalls are reviewed. The major inborn disorders of lipid and carbohydrate metabolism which can be detected in early pregnancy are tabulated and briefly discussed.
mesh_terms: D000649:Amniocentesis / Q000009:adverse effects; D000650:Amnion / Q000000981:diagnostic imaging / Q000473:pathology; D000653:Amniotic Fluid / Q000166:cytology; D001706:Biopsy; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D005332:Fetoscopy; D005333:Fetus / Q000000981:diagnostic imaging; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011859:Radiography; D014463:Ultrasonography