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KMID : 0892720030070010007
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Journal of the Korean Society of Maternal and Child Health
2003 Volume.7 No. 1 p.7 ~ p.17
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Analysis of Blood Sample Records for Neonatal Screening Test and External Quality Assessment for Inborn Errors of Metabolism in Korea
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Choi Tae-Youn
Kim Jong-Won
Min Won-Ki
Song Wung-Heung
Yoon Hye-Ran
Lee Keun
Lee Dong-Hwan
Lee Hong-Kyun
Cho Young-Kyun
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Abstract
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Objective : The purpose of this study was to assess the quality of national screening program for inborn errors of metabolism in 2001.
Methods : Neonatal screening test for inborn error of metabolism was performed for 382,338 newborns in 2001. Among them, 324,913 blood sample records for neonatal screening test were filed at Planned Parenthood Federation of Korea from February 2001 to January 2002. About 8% of the filed records (27,000 records) were proportionally sampled for 6 major metropolitan areas and 9 provinces. Data were abstracted from the blood sample records, various official records and quality control results.
Results : Proportion of first, second, third and fourth or more birth order of the babies was 57.8%, 35.2%, 6.3% and 0.7%, respectively. The male : female birth ratio was 113.7 : 100. The maternal age distribution showed a high concentration in late 20s and early 30s; 44.0% in 25-29 years and 42.8% in 30-34 years age group. The mean birth weight was 3.25kg (male 3.29kg, female 3.21kg). Proportion of breast feeding was 16.3%, formula feeding 61.5%, both beast and formula feeding 19.3%, and other 2.9%. Seventy percent of newborns who had received neonatal screening test had only two items; TSH and phenylalane screening tests. About 9% of newborns had screenings for all six items.
Among 382,338 newborns who were screened, 70 congenital hypothyroidisms and 9 phenylketonurias were detected, and these presented an incidence rate of congenital hypothyroidism 1/5,461 and that of phenylketonuria 1/42,482. The total incidence rate of inherited metabolic diseases was 1/4,839. Four trials of external quality assessment far tests of inborn error of metabolism were performed in 2001. Ten specimens for neonatal screening tests were distributed to 71 laboratories with 71 responses in the first trial, 70 responses in the second trial, 69 responses in the third trial and 68 responses in the fourth trial. The failed institutes were 0 in the first trial, 3 in the second trial, 3 in the third trial and 3 in the fourth trial.
The pass rate were 95.8-100% in each trial. Sixty six of 71 institutes were passed all in four trials. Conclusion -- National screening program should be expanded to include all items of screening tests for whole newborns under an appropriate quality control program.
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KEYWORD
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neonatal screening test, quality control, inborn error, metabolism, newborn
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