Newborn screening in Japan. 2003

Kikumaro Aoki
Kagawa Nutrition University, Saitama, Japan.

In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according to law. A new activity involving screening for Wilson disease now necessitates taking dried blood specimens from children 1-3 years old.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007564 Japan A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo. Bonin Islands
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D001800 Blood Specimen Collection The taking of a blood sample to determine its character as a whole, to identify levels of its component cells, chemicals, gases, or other constituents, to perform pathological examination, etc. Blood Specimen Collections,Collection, Blood Specimen,Collections, Blood Specimen,Specimen Collection, Blood,Specimen Collections, Blood
D006291 Health Policy Decisions, usually developed by government policymakers, for determining present and future objectives pertaining to the health care system. Health Care Policies,Health Policies,Healthcare Policy,National Health Policy,Care Policies, Health,Health Care Policy,Health Policy, National,Healthcare Policies,National Health Policies,Policies, Health,Policies, Health Care,Policies, Healthcare,Policy, Health,Policy, Health Care,Policy, Healthcare
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015397 Program Evaluation Studies designed to assess the efficacy of programs. They may include the evaluation of cost-effectiveness, the extent to which objectives are met, or impact. Evaluation, Program,Family Planning Program Evaluation,Program Appropriateness,Program Effectiveness,Program Sustainability,Appropriateness, Program,Effectiveness, Program,Evaluations, Program,Program Evaluations,Program Sustainabilities,Sustainabilities, Program,Sustainability, Program
D015997 Neonatal Screening The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant

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