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Genetic screening of newborn in Australia Results for 1980
Author(s) -
Pitt David,
Connelly John,
Francis I.,
Wilcken B.,
Brown D. A.,
Robertson Evelyn,
Hill G.,
Masters Peter,
Tucker Richard G.,
Raby Justin,
McFarlane Jean,
Hancock Joan
Publication year - 1982
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.1326-5377.1982.tb132198.x
Subject(s) - newborn screening , pediatrics , congenital hypothyroidism , medicine , thyroid
Since screening of newborn infants for phenylketonuria (PKU) by Guthrie bacterial inhibition assay was established in the 1960s, 2 779 790 infants have been tested in Australia. Two hundred and forty cases of PKU (rate: 1/11 582) and six cases of the variant forms of malignant hyperphenylalanin‐ aemia (MHPA) (rate: 1/463 298) have been detected. In 1980,18 infants with PKU were detected. Screening for congenital hypothyroidism was carried out in six centres, and 40 new cases were detected in 1980 (rate: 1/5357).