目的 分析2012—2022年新疆伊犁哈萨克自治州新生儿遗传代谢病（inherited metabolic disease,IMD）筛查结果，为新生儿出生缺陷防治工作提供理论依据。方法 回顾性收集2012—2022年伊犁哈萨克自治州妇幼保健院管辖内参与先天性甲状腺功能减低症（congenital hypothyroidism,CH）和苯丙酮尿症（phenylketonuria,PKU）筛查的267 741份新生儿足跟血血片资料，通过对其检测得出的促甲状腺激素（thyroid stimulating hormone,TSH）和苯丙氨酸（phenylalanine,Phe）浓度数据进行分析，对比各年度新生儿CH、PKU及高苯丙氨酸血症（hyperphenylalaninemia,HPA）的筛查率、不合格率、不合格复采率及初筛可疑阳性召回率的情况和差异。结果 2012—2022年伊犁哈萨克自治州妇幼保健院遗传实验室共筛查新生儿267 741例，筛查率由2012年的35.53%上升至2022年的98.75%，初筛可疑阳性召回率由2012年的57.79%上升至2022年的89.09%，血片不合格率由2012年的2.41%降低至2022年的0.72%，不合格血片复采率由2012年的23.29%上升至2022年的82.71%。2012—2022年共确诊新生儿遗传代谢病132例，其中CH 84例、PKU 21例、轻度HPA 27例。结论 提高新生儿遗传代谢病筛查率、可疑阳性召回率及不合格血片复采率能减少出生缺陷并有效促进我国优生优育工作。

Objective To analyze the results of neonatal inherited metabolic disease(IMD) screening in Yili Kazak Autonomous Prefecture, Xinjiang from 2012 to 2022, so as to provide a theoretical evidence for prevention and treatment of birth defects.Methods Data of 267 741 new borns who were involved in congenital hypothyroidism(CH) and phenylketonuria(PKU) screening in Maternal and Child Health Care Hospital of Yili Kazak Autonomous Prefecture were collected retrospectively from 2012 to 2022.Thyroid stimulating hormone(TSH) and phenylalanine(Phe) L-phenylalanine were analyzed through testing blood specimens taken from the heel of newborns. Annual screening rate, unqualified rate, unqualified blood re-sampling rate and the suspicious positive recall rate of CH, PKU and hyperphenylalaninemia(HPA) were compared. Results A total of 267 741 newborns were screened by the genetic laboratory of Maternal and Child Health Care Hospital of Yili Kazak Autonomous Prefecture from 2012 to 2022, and the screening rate increased from 35.53% in 2012 to 98.75% in 2022. The recall rate of suspected positive cases increased from 57.79% in2012 to 89.09% in 2022, while the unqualified rate of blood specimens decreased from 2.41% in 2012 to 0.72% in 2022. The re-collection rate of unqualified blood specimens increased from 23.29% in 2012 to 82.71% in 2022. In addition, 132 newborns were diagnosed with IMD, including 84 cases of CH, 21 cases of PKU and 27 cases of mild HPA. Conclusion Increasing screening rate,suspicious positive recall rate and unqualified blood re-sampling rate of neonatal IMDs reduce birth defects, and effectively promote prenatal and postnatal care.