新生儿遗传代谢病筛查随访专家共识

Expert consensus on the follow-up of newborn screening for neonatal genetic and metabolic diseases

随访是新生儿遗传代谢病筛查中非常重要的一环,直接影响患儿的检出、确诊和疗效,影响新生儿疾病筛查的工作质量。鉴于我国各地新生儿遗传代谢病筛查有关机构和人员存在着随访不足、认识不尽相同,要求不一致,迫切需要规范有关事宜,国家卫健委临床检验中心新生儿遗传代谢病筛查室间质量评价专家委员会组织专家经过多次讨论,制定出新生儿遗传代谢病筛查随访专家共识,指导随访工作开展,提高随访工作质量。

Follow-up is a crucial step for the screening of neonatal genetic and metabolic diseases,which can directly influence the detection,diagnosis,efficacy of treatment,as well as the quality of neonatal screening.In view of the lack of follow-up,full understanding,and inconsistent requirement between various agencies and personnel in China,there is an urgent need for standardization.The Committee for Proficiency Testing of the Neonatal Genetic Metabolic Disease Screening Center of the National Health Committee of China has organized the writing of expert consensus for follow-up of neonatal genetic and metabolic disease screening after thorough discussion,with an aim to guide the follow-up work and improve its quality.