Abstract: Neonatal gene screening is a pre-symptom screening for genetic diseases that are relatively common in neonates and have certain clinical intervention values，such as hereditary deafness，metabolic diseases，blood diseases，neuromuscular diseases and immune deficiency diseases. The cost of neonatal gene screening is currently high，and there may be a few false positive diagnoses due to inappropriate judgment of the pathogenicity of some genetic variations. However， it has advantages that it can screen hundreds of diseases in only one test，it is highly efficient and sensitive，and it is independent of phenotype， which makes it a significant milestone innovation in neonatal disease screening，it will enable more children with genetic diseases to receive diagnosis and interventions in early stage before the damage of disease happens， reducing or avoiding health damage of diseases to suffered children.

Key words: neonatal screening, genetic diseases, gene testing, pre-symptomatic diagnosis

摘要： 新生儿基因筛查是利用基因检测技术，对常见和有临床干预价值的遗传病进行新生儿症状前筛查，如遗传性耳聋、血液病、神经肌肉疾病、遗传代谢病和免疫缺陷病等。虽然新生儿基因筛查目前成本较高，某些基因变异的致病性误判可能导致假阳性诊断，但因其一次检测可以筛查上百种遗传性疾病，高效灵敏，不依赖于患儿表型就可做出症状前诊断，是新生儿疾病筛查发展中具有重要里程碑意义的创新之举。新生儿基因筛查服务的逐步应用，将使得更多的遗传病患儿在疾病损害发生前得到诊断和治疗干预，减轻和避免疾病对儿童造成不可逆转的健康损害。

关键词: 新生儿筛查, 遗传病, 基因检测, 症状前诊断