目的 分析优化质量控制体系与评价指标对新生儿遗传代谢病筛查（简称新筛）效率的影响。方法 采用管理质量、血片质量、诊治质量3个维度的13个评价指标，分析浙江省《质量控制监测与评价指标》（简称《指标》）建立前的2013年，建立后的2015年、修订后的2020年和2023年新筛工作质量变化，了解考核与管理指标对新筛工作的实际影响。结果 2013、2015、2020和2023年之间浙江省新筛率和召回率经卡方检验差异有统计学意义（P<0.05），但经线性回归检验后差异无统计学意义（P>0.05）。不同年份之间浙江省新生儿遗传代谢病的血片不合格率、血片不合格数未补采率、血片迟递率和血片缺错项率经卡方检验差异均有统计学意义（P<0.05），2023年上述指标均达到最低值；并通过线性回归检验后显示血片不合格率、血片不合格数未补采率和血片缺错项率有下降趋势（P<0.05）。不同年份之间先天性甲状腺功能减低症（CH）和苯丙酮尿症（PKU/BH4D）生后2、3和4周的诊断率和治疗率经卡方检验差异均有统计学意义（P<0.05），经线性回归进行趋势检验后CH生后2、4周诊断率和治疗率及PKU/BH4D生后3周诊断率和治疗率有上升趋势（P<0.05）。结论 通过建立和优化可量化的《指标》能有效评价和提升浙江省新筛的工作效率，从而进一步加强对于出生缺陷的防治能力。

Objective To analyze the effect of optimized quality control system and evaluation indicators on the screening efficiency of neonatal genetic metabolic diseases. Methods By utilizing 13 evaluation indices across three dimensions, namely management quality, blood film quality, and diagnosis and treatment quality, the study analyzed the variations in the quality of screening work before the establishment of Zhejiang Quality Control Monitoring and Evaluation Indicators in 2013, after its establishment in 2015, as well as in 2020 and 2023 following subsequent revisions. This analysis aimed to comprehend the actual impact of assessment and management indices on the screening work. Results The screening rate and recall rate of genetic metabolic diseases in newborns in Zhejiang Province between 2013, 2015, 2020 and 2023 were statistically significant by Chi-square test (P<0.05), but there was no statistically significant difference by linear regression test (P>0.05). There were statistically significant differences in the rate of unqualified blood samples, the rate of incomplete collection of unqualified blood samples, the rate of delayed delivery for blood samples and the rate of missing and incorrect blood samples in neonatal genetic metabolic diseases in Zhejiang Province among different years (P<0.05). In 2023, the above indicators all reached the lowest value. After the linear regression test, the rate of unqualified blood samples, the rate of incomplete collection of unqualified blood samples, and the rate of missing and incorrect blood samples showed a downward trend (P<0.05). Chi-square test showed significant differences in diagnosis and treatment rates of congenital hypothyroidism (CH) and phenylketonuria/tetrahydrobiopterin deficiency (PKU/BH4D) at 2, 3 and 4 weeks after birth among different years (P<0.05). After the trend test by linear regression, the 2-week and 4-week diagnostic rates (treatment rates) of CH and the 3-week diagnostic rates (treatment rates) of PKU/BH4D showed an upward trend (P<0.05). Conclusions Establishing and optimizing quantifiable "indicators" can effectively evaluate and improve the efficiency of screening for genetic metabolic diseases in newborns in Zhejiang Province, so as to further strengthen the prevention and control ability of birth defects.