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Med J Aust. 1983 Apr 2;1(7):333-5.

Genetic screening of newborn in Australia. Results for 1981.


Since screening of newborn infants for phenylketonuria (PKU) by the Guthrie bacterial inhibition assay was established in the 1960s, 3 017 703 infants have been tested in Australia. Two hundred and fifty-one cases of PKU (0.83/10 000) and six cases of the variant forms of malignant hyperphenylalaninaemia (MHPA) (0.02/10 000) have been detected. In 1981, 11 infants with PKU were detected. Screening for congenital hypothyroidism was carried out in seven States, and 66 new cases were detected in 1981 (2.13/10 000). In Adelaide, 154 310 infants have been tested for galactosaemia and a total of seven cases have now been detected (0.45/10 000). In New South Wales, 35 955 infants have been tested for cystic fibrosis of the pancreas, and 17 cases were found (4.73/10 000).

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