The role of screening in the prevention of inherited disease in South Africa.
It is now possible to screen for the presence of the carrier state of a number of inherited diseases. Such screening can alert one to the need for antenatal diagnosis where feasible, it can ensure that early treatment is given to affected infants, and it can assist carriers in reaching a decision about having children. Facilities for certain types of screening already exist in some centres in South Africa, and new techniques will be introduced in the future.
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology; D002091:Butyrylcholinesterase / Q000172:deficiency; D003550:Cystic Fibrosis / Q000453:epidemiology; D005260:Female; D030342:Genetic Diseases, Inborn / Q000517:prevention & control*; D006453:Hemoglobinopathies / Q000453:epidemiology; D006801:Humans; D006949:Hyperlipidemias / Q000453:epidemiology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D007585:Jews; D008064:Lipidoses / Q000517:prevention & control; D008297:Male; D008403:Mass Screening; D010661:Phenylketonurias / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013019:South Africa
D002091:Butyrylcholinesterase