Abstract
In Japan, the national newborn screening program was initiated in 1977. In recent years, expanded newborn screening using tandem mass spectrometry, which permits multiple and rapid diagnoses of diverse inborn errors of metabolism from one dried blood spot, has been widely performed around the world. Expanded newborn screening by tandem mass spectrometry started in Saitama prefecture in October 2012. We analyzed screening data obtained within two years and three months. From October 2012 to December 2014, 105,905 newborns were screened and 14 infants were diagnosed as having disorders. The incidence of screened disorders was 1:7,564. There were 14 newborns confirmed to have disorders in the oxidation of amino acids (n = 6), organic acids (n = 2), and fatty acids (n = 6). The newborn screening program provides a valuable approach to preventive medicine by enabling early diagnosis and appropriate treatment before the onset of symptoms. For the babies and their families, this program should be a coordinated comprehensive system consisting of screening, diagnosis, treatment and follow-up.
