KMID : 0918520140140020150
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Journal of the Korean Society of Inherited Metabolic Disease 2014 Volume.14 No. 2 p.150 ~ p.155
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Analysis and Cut-off Adjustment of Dried Blood Spot 17alpha-hydroxyprogesterone Concentration by Birth Weight
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Park Seung-Man
Kwon Ae-Rin Yang Song-Hyun Park Eun-A Choi Jae-Hwang Hwang Mi-Jung Nam Hyeon-Gyeong Lee Eun-Hee
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Abstract
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The measurement of 17¥á-hydroxyprogesterone (17¥á-OHP) in a dried blood spot on filter paper is an important for screening of congenital adrenal hyperplasia (CAH). Since high levels of 17¥á-OHP are frequently observed in premature infants without congenital adrenal hyperplasia, we evaluated cuts-off based on birth weight and performed validation. Birth weight and 17¥á-OHP concentration data of 292,204 newborn screening subjects in Greencross labopratories were analyzed. The cutoff values based on birth weight were newly evaluated and validated with the original data. The mean 17¥á-OHP concentration were 7.25 ng/mL in very low birth weight (VLBW) group, 4.02 ng/ mL in low birth weight (LBW) group, 2.53 g/mL in normal birth weight (NBW) group, and 2.24 ng/mL in heavy birth weight (HBW) group. The cut-offs for CAH were decided as follows: 21.12 ng/mL for VLBW and LBW groups and 11.14 ng/mL for NBW and HBW groups. When applied new cut-offs for original data, positive rates in VLBW and LBW groups were decreased and positive rates in NBW and HBW groups were increased. The cut-offs based on birth weight should be used in the screening for CAH. We believe that our new cut-off reduce the false positive rate and false negative rate and our experience for cut-off set up and validation will be helpful for other laboratories doing newborn screening test.
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KEYWORD
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Newborn screening, 17¥á-hydroxyprogesterone (17¥á-OHP), Cut-off
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