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KMID : 0667720000370000390
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Report Natlonal Institute of Health
2000 Volume.37 No. 0 p.390 ~ p.391
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Prespectives and Significance in Korea for Neonatal Screening test of Congenital Metabolic Disorders
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김성수/Kim, S. S.
이환석/손용규/오범석/정성철/이진성/Lee, H. S./Son, Y. K./Oh, B. S./Jung, S. C./Lee, J. S.
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Abstract
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Purposes: To evaluate the efficiency of different methods used for the diagnosis of genetic disease in Korea,
Methods: 1. Studying about genetic diseases which are available for screening test in Korea. 2. Collecting and Analyzing raw data evaluated from different laboratories 3. Analyzing data registered in DB of genetic diseases in KNIH and medical insurance system 4. Analyzing data obtained from screening tests
Results : 1. The number of patients with congenital hypothyroidism were 371 among suspected cases based on health insurance treatment data. 2. PKU patients were 8 and one of them was PTP synthetase deficiency 3. There were 4 MSUD patients, 2 homocystinuria and 1 galactosemia identified by reviewing medical records of the suspected cases. 4. The cost-effectiveness of nation-wide neonatal screening program has to bere-evaluated. 5. The number of the institute performing the neonatal screening is too many in the nation and it should be reorganized for effective screening program
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KEYWORD
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