Neonatal screening for biochemical disorders.
Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic principles involved and looks at a wide range of diseases which may be considered as candidates for neonatal screening.
Holton
J B
JB
Department of Clinical Chemistry, Southmead Hospital, Bristol.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D003409:Congenital Hypothyroidism; D003365:Costs and Cost Analysis; D003550:Cystic Fibrosis / Q000175:diagnosis; D005819:Genetic Markers; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010661:Phenylketonurias / Q000175:diagnosis
D005819:Genetic Markers