影响干血片法筛查新生儿四种病因素的初步探究

Investigation of the factors influencing dried-blood method in neonatal disease screening

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 explore the factors that can influence the results of neonatal disease screening （Hypothroidism （CH） , Phenylketonuria （PKU） , Congenital adrenal hyperplasia （CAH） , glucose-6-phosphate dehydrogenase deficiency （G-6-PD）） . Method： Detect the TSH, Phe, 17-OHP and G-6-PD in neonatal peripheral blood using DELFIA or FACS method. Results： firstly, seasonal changes and hypothermia have a significant influence on TSH values, the sample values can stabled for 30 days at 4~C; secondly, different born age for sampling display an important influence on neonatal PKU screening and at born of age 72h is the right time; thirdly, the testing lapse after harvest of samples is the most important factor that impact the G-6-PD values; lastly, gestational age of the fetus and born age for sampling display a significant influence on the values of 17-OHP. Conclusion： gestational age of fetus, born age for sampling and storage conditions all will influence the results of neonatal diseases tested using dried blood method. The optimized experimental conditions on neonatal screening can reduce false- positive rate, down the recall rate and ensure the quality of screening.