新生儿遗传代谢病筛查结果影响因素及存在问题研究进展

Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

本文概述了目前我国新生儿遗传代谢病(IMD)筛查的现状,主要对筛查结果的影响因素进行了归纳,并对筛查过程中存在的新生儿血片采集时间不合理、筛查指标切值不规范、筛查阳性新生儿召回率低等突出问题做了总结,旨在为我国新生儿IMD筛查工作的规范开展提供借鉴和参考。

This paper summarizes the current situation of inherited metabolic disease(IMD)screening for neonates in China,combs the influencing factors for screening results and the prominent problems in the screening process,such as unreasonable neonatal blood collection time,the non-standard screening index of cut-off value and low recall rate of positive screening newborns,thereby providing reference for the standardization of IMD screening for neonates in China.