Screening for Genetic Diseases
- 1 May 1997
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 336 (18) , 1314-1316
- https://doi.org/10.1056/nejm199705013361810
Abstract
With better knowledge of the genetics of various diseases, testing for the underlying defects with the use of biochemical and molecular techniques is increasingly possible. The practical aim of these tests is the prevention and treatment of disease. The first widespread screening test was for the detection of phenylketonuria in newborns. In addition to screening newborns, there are other strategies for identifying genetic disorders. Screening for fetal disease has become common during pregnancy and includes searching for chromosomal defects (such as in Down's syndrome) with amniocentesis or chorionic-villus sampling. Screening of maternal blood for alpha-fetoprotein to detect neural-tube defects and . . .Keywords
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