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GENETIC SCREENING OF NEWBORN IN AUSTRALIA: RESULTS FOR 1979
Author(s) -
Pitt D.,
Connelly J.,
Francis I.,
Wilcken Bridget,
Brown D. A.,
Robertson Evelyn,
Hill G.,
Masters P.,
Tucker R. G.,
Raby J.,
McFarlane Jean,
Hancock Joan
Publication year - 1981
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1981.tb135290.x
Subject(s) - incidence (geometry) , pediatrics , newborn screening , medicine , optics , physics
Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s, 2556498 infants have been tested in Australia. Two hundred and twenty‐two cases of PKU. and five cases of the variant forms of malignant hyperphenylal‐aninaemia (MHPA) have been found over this period, an incidence of 1/11516 for PKU, and 1/511300 for MHPA. In 1979, 18 infants with PKU and one with MHPA were detected. Screening for congenital hypothyroidism was carried out in four centres, and 28 new cases were detected in 1979 (an incidence of 1/5746).