Jiang Xiang, Tang Fang, Feng Yi, Li Bei, Jia Xuefang, Tang Chengfang, Liu Sichi, Huang Yonglan
Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, P.R. China.
Guangzhou Newborn Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510180, Guangdong Province,P.R. China, Phone/Fax: +86-20-81330406.
J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1253-1258. doi: 10.1515/jpem-2019-0140.
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.
背景 由于先天性肾上腺皮质增生症（CAH）筛查的假阳性率高且阳性预测值（PPV）低，该筛查面临巨大挑战。我们使用基因筛查处理器（GSP），根据胎龄（GA）、出生体重（BW）和采样时的年龄，建立并优化了用于CAH新生儿筛查的17-羟孕酮（17-OHP）临界值。方法 采用时间分辨免疫荧光法测定48592例新生儿干血斑中的17-OHP浓度，并根据GA、BW和采样时的年龄进行分组。以第99.5百分位数作为初始临界值的参考。结果 不同GA和BW的新生儿17-OHP浓度存在显著差异。不同采样年龄组之间也观察到显著差异。最后，我们根据GA和采样时的年龄定义了新的多层临界浓度。应用新的临界值使阳性率降低了30%，PPV提高了40%。结论 GA、BW和采样年龄影响17-OHP的浓度。根据GA和采样时的年龄调整多层临界值可显著提高先天性肾上腺皮质增生症筛查的效率。
