澳大利亚新生儿基因筛查。1978年的结果。

Genetic screening of the newborn in Australia. Results for 1978.

作者信息

Pitt D, Connelly J, Francis I, Wilcken B, Brown D A, Hill G, Masters P, Tucker R G, Raby J, McFarlane J

出版信息

Med J Aust. 1979 Sep 8;2(5):272-3. doi: 10.5694/j.1326-5377.1979.tb127138.x.

DOI:10.5694/j.1326-5377.1979.tb127138.x

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).

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2334679名婴儿接受了检测，共检测出208例苯丙酮尿症（发病率为1/11224）。1978年，检测出21例苯丙酮尿症患儿。三个州开展了甲状腺功能减退症筛查，1978年检测出29例先天性甲状腺功能减退症（发病率为1/5894）。