With better knowledge of the genetics of various diseases, testingfor the underlying defects with the use of biochemical and moleculartechniques is increasingly possible. The practical aim of thesetests is the prevention and treatment of disease. The firstwidespread screening test was for the detection of phenylketonuriain newborns. In addition to screening newborns, there are otherstrategies for identifying genetic disorders. Screening forfetal disease has become common during pregnancy and includessearching for chromosomal defects (such as in Down's syndrome)with amniocentesis or chorionic-villus sampling. Screening ofmaternal blood for alpha-fetoprotein to detect neural-tube defectsand . . . [Full Text of this Article]
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