澳大利亚新生儿基因筛查。1981年的结果。

Genetic screening of newborn in Australia. Results for 1981.

作者信息

Pitt D, Connelly J, Francis I, Wilcken B, Brown D A, Robertson E, Hill G, Masters P, Raby J, McFarlane J, Bowling F, Hancock J

出版信息

Med J Aust. 1983 Apr 2;1(7):333-5. doi: 10.5694/j.1326-5377.1983.tb136112.x.

DOI:10.5694/j.1326-5377.1983.tb136112.x

PMID:6835136

Abstract

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).

摘要

自20世纪60年代通过格思里细菌抑制试验对新生儿进行苯丙酮尿症（PKU）筛查以来，澳大利亚已有3017703名婴儿接受了检测。已检测出251例苯丙酮尿症（0.83/10000）和6例恶性高苯丙氨酸血症（MHPA）变异型（0.02/10000）。1981年，检测出11例苯丙酮尿症患儿。在七个州开展了先天性甲状腺功能减退症筛查，1981年检测出66例新病例（2.13/10000）。在阿德莱德，154310名婴儿接受了半乳糖血症检测，目前共检测出7例（0.45/10000）。在新南威尔士州，35955名婴儿接受了胰腺囊性纤维化检测，发现17例（4.73/10000）。