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目的探讨影响干血片法筛查新生儿四种病(甲状腺功能低下症、苯丙酮尿症、肾上腺皮质增生症和葡萄糖-6-磷酸脱氢酶缺乏症)结果的因素。方法采用时间分辨荧光免疫分析、流式荧光检测方法,分别检测干血片中促甲状腺素(TSH)、苯丙氨酸(Phe)、葡萄糖-6-磷酸脱氢酶(G-6-PD)、17-α羟孕酮(17-OHP)的含量。结果 TSH筛查结果受季节性变化影响比较显著;室温自然晾干的血片储存于4℃冷藏环境中有助于TSH的稳定,30天后测定其TSH含量仍能达到新鲜测定值的93%。采血时间对Phe的测定有显著影响,新生儿出生72h以后采血可明显降低筛查假阳性率比例。另一方面,标本采集后的检测时间是影响G-6-PD测定值的最重要因素。最后,17-α羟孕酮的测定结果与胎儿孕周以及出生后采血时间有着密切关系。结论胎儿孕周、标本采血时间及保存条件等因素均会对干血片法筛查新生儿四种病的筛查结果产生显著影响。新生儿疾病筛查实验条件的优化能够减少筛查中假阳性率的出现,降低召回率,保证筛查质量。
Objective To investigate the factors influencing the results of dry blood chip screening screening for four diseases of neonates (hypothyroidism, phenylketonuria, adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency). Methods The time-resolved fluorescence immunoassay and flow cytometry were used to detect the levels of TSH, Phe, G-6-PD, , 17-alpha hydroxyprogesterone (17-OHP) content. Results TSH screening results were significantly affected by seasonal changes. The stored blood samples stored at room temperature in 4 ℃ refrigerated environment contributed to the stability of TSH. After 30 days, the TSH content still reached 93% of the fresh measured value. Phe blood sampling time had a significant impact on the determination of newborns after 72h blood sampling can significantly reduce the proportion of false positive screening rate. On the other hand, the detection time after specimen collection is the most important factor affecting the G-6-PD assay. Finally, the determination of 17-alpha hydroxyprogesterone is associated with fetal gestational age and blood sampling time after birth. Conclusion Fetal gestational age, specimen collection time and storage conditions and other factors will have a significant impact on the screening results of dry film screening for four diseases of neonates. The optimization of experimental conditions for neonatal disease screening can reduce the incidence of false positives in screening, reduce the recall rate and ensure screening quality.