The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling

医学 先天性肾上腺增生 羟孕酮 胎龄 产科 适合胎龄 采样(信号处理) 小于胎龄 儿科 内分泌学 怀孕 激素 滤波器(信号处理) 计算机视觉 生物 类固醇 遗传学 计算机科学
作者
Xunqing Jiang,Fang Tang,Yan Feng,Bei Li,Xiaoting Jia,Chengfang Tang,Sichi Liu,Yi‐Zhi Huang
出处
期刊:Journal of Pediatric Endocrinology and Metabolism [De Gruyter]
卷期号:32 (11): 1253-1258 被引量:12
标识
DOI:10.1515/jpem-2019-0140
摘要

Background Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling. Methods The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference. Results Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV. Conclusions GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.
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