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Developments of Neonatal Screening in TaiwanSzu-Hui Chiang (½±«ä¼z) and Kwang-Jen Hsiao (¿½¼s¤¯)
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Department of Medical Research and Education, Taipei Veterans General Hospital,
Taipei, Taiwan 112
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Abstract
Some of the congenital metabolic disorders have no specific clinical symptoms during neonatal period, if not treated early irreversible damages such as mental retardation will occur. The permanent damages can be avoided if these diseases are able to be detected biochemically by neonatal screening in the early stage of life, and treated immediately with appropriate therapy and intervention. Method development pilot programs (including dried blood sample collecting, screening tests, confirmatory diagnostic procedures and treatments) were carried out in mental retarded children between 1982 and 1983 in Taiwan. Based on the methods developed, the nationwide project to set up neonatal screening for congenital hypothyroidism (CHT), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria (HCU), and galactosemia (GAL) was started in January 1984. The nationwide neonatal screening system consisted of sample collection institutes, newborn screening centers, public health nurse follow-up network, and referral hospitals for confirmatory diagnosis and treatment. After the nationwide neonatal screening system was established in July 1985, the method for screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency was developed. The incidence of G6PD deficiency was estimated to be about 2% (male 3%, female 0.9%) in Taiwan based on the screening program. Since no MSUD was found from 200,000 newborns screened, after a two year (1985.7-1987.6) pilot study on G6PD screening, MSUD was replaced by G6PD in the routine nationwide neonatal screening program. The screening coverage rate in Taiwan has reached 80% in 1990 and over 99% since 1996. From 1984.1 to 2004.12, 4,960,705 newborns have been screened. The incidences of CHT, PKU, HCU, and GAL were reported to be about 1/1,800, 1/30,500, 1/204,000, and 1/307,000, respectively. Most of the affected cases (>93.7%) were detected and treated accordingly within one month of birth and are developing normally at the present time.
Each of the three neonatal screening centers in Taiwan has started individual voluntary program paid by the parents for selective screening of congenital adrenal hyperplasia (CAH) and defects in other amino acids and acylcarnitines metabolisms, which were detected by tandem mass spectrometry (MS/MS), since 2000.3 and 2001.8, respectively. The incidence of CAH was estimated around 1/18,000 from 868,000 newborns screened between 2000.3 and 2004.12. Fifteen cases of 3-methylcrotonyl-CoA carboxylase deficiency (3MCC) / 3-hydroxy-3-methylglutaric aciduria (HMG), 4 cases of MSUD, 2 cases of tyrosinemia, 6 cases of citrullinemia (CIT), 4 cases of glutaric aciduria type I (GAI), 2 case of medium chain acyl-CoA dehydrogenase deficiency (MCAD), and 1 case each of methylmalonic aciduria (MMA), propionic acidemia (PA), Argininemia, short chain acyl-CoA dehydrogenase deficiency (SCAD) and nonketotic hyperglycinemia were detected from 452,800 newborns by the MS/MS screening between 2001.8 and 2004.12.
Recently, a technological assessment research supported by the Bureau of Health Promotion, Department of Health has reached following consent recommendation about the adjustment of the items for neonatal screening in Taiwan: 1). the 5 current routine items should be kept, 2). CAH, MSUD, medium chain acyl-CoA dehydrogenase deficiency (MCAD), glutaric aciduria Type I (GAI), methylmalonic aciduria (MMA), and isovaleric acidemia (IVA) should be included as routine items, 3). biotinidase deficiency, argininosuccinase deficiency, citrullinemia (CIT), propionic academia (PA), and C5OH-carnitine should be consider to be included as a pilot project, 4). any other disease which could be detected by MS/MS should be considered as a research item only at the present time, 5). any disease incorporated into the routine services, including pilot project items, should have confirmatory diagnosis and follow up treatment system prepared in place before its screening program starts, 6). the positive results of CAH, G6PD, GAL, and MS/MS tests should be referred for follow-up no later than 7 days after birth, 7). the routine screening items should be available to all the newborns non-selectively (e.g. should not be selected by voluntary payments), 8). the routine screening items should be reviewed periodically.
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¡@Copyright: ¹w¨¾Âå¾Ç°òª÷·|¡@¡@¡@ Updated on : 23 Dec, 2005