Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.

IF 4 Q1 GENETICS & HEREDITY
Xiangchun Yang, Jing Liu, Xia Li, Dongyang Hong, Shanshan Wu, Changshui Chen, Haibo Li
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Abstract

Seasonal and environmental factors, including temperature, humidity, and storage conditions, significantly impact the stability of biochemical markers in dried blood spot (DBS) samples. This study investigates these influences specifically for adenosine (ADO) levels, a critical biomarker for neonatal screening of adenosine deaminase (ADA) deficiency. This study analyzed seasonal fluctuations in ADO concentrations across three regions in China (Ningbo, Nanjing, and Changsha) over 11 months, and evaluated ADO stability under different storage conditions (4 °C, 20 °C, and 40 °C). ADO levels demonstrated significant seasonal variability, peaking in July-August. Median concentrations increased by 111-189% in warmer months compared to winter across all sites. Storage experiments showed that ADO was most stable at 4 °C (fluctuations < 5% over 7 days), while levels at 40 °C increased by 18%. Re-adjusting the ADO reference range based on seasonal data reduced false positive rates from 2.48% to 0.15%, a 94% reduction. This study underscores the necessity of implementing seasonally dynamic reference ranges and strict cold-chain storage (4 °C) to enhance screening accuracy for ADA deficiency. The findings provide a robust foundation for optimizing neonatal screening protocols globally, especially in regions with distinct seasonal climates.

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干血斑中腺苷的季节性波动和稳定性用于新生儿筛查。
季节和环境因素,包括温度、湿度和储存条件,显著影响干血斑(DBS)样品中生化标志物的稳定性。这项研究专门研究了这些对腺苷(ADO)水平的影响,腺苷(ADO)水平是新生儿筛查腺苷脱氨酶(ADA)缺乏症的关键生物标志物。本研究分析了中国三个地区(宁波、南京和长沙)在11个月内ADO浓度的季节性波动,并评估了ADO在不同储存条件(4°C、20°C和40°C)下的稳定性。ADO水平表现出显著的季节变化,在7 - 8月达到峰值。与冬季相比,所有站点在温暖月份的中位数浓度增加了111-189%。储存实验表明,ADO在4°C时最稳定(7天内波动< 5%),而在40°C时含量增加18%。基于季节数据重新调整ADO参考范围将假阳性率从2.48%降低到0.15%,降低了94%。本研究强调了实施季节性动态参考范围和严格冷链储存(4°C)的必要性,以提高对ADA缺乏症的筛查准确性。研究结果为优化全球新生儿筛查方案提供了坚实的基础,特别是在具有明显季节性气候的地区。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
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