title: Genetic screening of the newborn in Australia. Results for 1978.
abstract: Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s. 2 334 679 infants have been tested in Australia, and 208 cases of PKU detected (an incidence of 1/11 224). In 1978, 21 infants with PKU were detected. Screening for hypothyroidism was carried out in three States, and 29 cases of congenital hypothyroidism were detected in 1978 (an incidence of 1/5894).
mesh_terms: D001315:Australia; D001801:Blood Stains; D003409:Congenital Hypothyroidism; D003555:Cystinuria / Q000175:diagnosis; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005820:Genetic Testing / Q000379:methods; D006639:Histidine / Q000097:blood; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis*; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis*
chemical_list: D010649:Phenylalanine; D006639:Histidine