Abstract: Severe combined immunodeficiency （SCID）, X-linked agammaglobulinemia （XLA） and spinal muscular atrophy （SMA） are genetic birth defects that seriously affect children's health and even lead to death. Early screening, diagnosis and treatment are essential for improving prognosis and decreasing morbidity. Newborn screening is an effective measure to early identify patients with these birth defects. In some countries and regions, SCID, XLA and SMA have been added into NBS panels. As similarities in screening methods of these three diseases, the implement of combined newborn screening improves the cost-effectiveness of newborn screening. 

Key words: severe combined immunodeficiency, X-linked agammaglobulinemia, spinal muscular atrophy, newborn screening, combined screening

摘要： 重症联合免疫缺陷病（SCID）、X-连锁无丙种球蛋白血症（XLA）和脊髓性肌萎缩症（SMA）是严重影响儿童健康甚至导致死亡的遗传性出生缺陷。早期筛查、早期诊断及早期治疗是改善预后、降低病死率的关键。新生儿筛查是实现早期诊治的有效手段,部分国家和地区已将这3种疾病纳入新生儿筛查的范围。开展3种疾病的新生儿联合筛查,可优化筛查的成本效益。

关键词: 重症联合免疫缺陷病, X-连锁无丙种球蛋白血症, 脊髓性肌萎缩症, 新生儿筛查, 联合筛查