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Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots

Journal of the Korean Pediatric Society 1999;42(12):1639-1644.
Published online December 15, 1999.
Re-Evaluation of Neonatal Screening Tests for Inborn Errors of Metabolism with Dried Filter Paper Blood Spots
Kye Shik Shim1, Jin Soon Hwang1, Jung Sub Lim1, Se Young Kim1, Choong Ho Shin1, Sei Won Yang1, Jung Hwan Choi1, Chong Ku Yun1, Jung-Han Song2
1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
2Department of Clinical Pathology, College of M edicine, Seoul National University, Seoul, Korea
여과지 검체에 의한 신생아 선천성 대사이상 선별검사의 재평가
심계식1, 황진순1, 임중섭1, 김세영1, 신충호1, 양세원1, 최중환1, 윤종구1, 송정한2
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 임상병리과학교실
Correspondence: 
Kye Shik Shim, Email: 1
Abstract
Purpose
: There have been high rates of false positive and recall in neonatal screening test using the cut-off points set by the manufacturing company. So, it is necessary to re-evaluate the cut off values to minimize the false positive rates.
Methods
: We collected capillary blood in dry filter paper from 996 healthy neonates on the third day in cases of normal vaginal delivery or the fifth day in cases of Cesarean section. The levels of phenylalanine, galactose, 17-hydroxyprogesterone and branched-chain amino acids were measured using enzyme immunoassay. The results were compared with the original cut-off points set by the manufacturing company.
Results
: The original cut-off points of four substances were 4.0mg/dL, 7.5mg/dL, 35ng/mL, and 8.0mg/dL, respectively, so that false-positive rates were 0.4, 1.6, 3.93, and 0.001%, respectively. When we set the cut-off point at 99.7 percentile using the data from healthy neonates, they should be 4.0mg/dL, 9.2mg/dL, 54.3ng/mL, and 8.0mg/dL, respectively. Conclusion : The false-positive and recall rates were higher in galactosemia and congenital adrenal hyperplasia when using the original cut-off points, suggesting that it would be reasonable to modify the cut-off point at 99.7 percentile after measuring those substances from enough of healthy neonates.
Key Words: Neonatal screening test, Cut-off point


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