Evaluation of the Screening Quality of 274 054 Newborns with Genetic Metabolic Diseases by Tandem Mass Spectrometry in Ningxia
Objective To understand the quality control of multiple genetic metabolic diseases screening by tandem mass spectrometry in Ningxia.Methods A total of 274 054 cases of neonatal genetic metabolic disease screening data were analyzed using tandem mass spectrometry from February 2017 to September 2021.Combined with 16 quality control indicators in the entire process of neonatal genetic metabolic disease screening,the focus was on the analysis of pre-experiment(missing blood film registration information,blood film qualification rate,etc.),quality control during the experiment(real-time correction of cut-off values the normal population of newborns)and after the experiment(positive screening rate,positive screening recall rate,loss of follow-up rate,etc.).Results The results of statistics on the quality of blood slides:a total of 274 054 newborn dry filter paper blood slides collected and delivered by 78 midwifery institutions were tested,and project education.Data integrity analysis showed that 1.41％missing in gestational age,and 0.09％missing in weight.The initial screening positive rate was 2.88％,and the confirmed positive rate was 1.02％o.The median turnover cycle of blood samples before testing was 5 days,and the median distribution cycle of test reports was 3-5 days.The qualified rate of blood collection was over 99.00％,and the suspected positive recall rate was 82.67％in 2018 and 92.92％in 2021.Conclusion Regular retrospective collection and analysis of data can timely understand and control the quality of screening for genetic metabolic diseases in newborns using tandem mass spectrometry.
newbornsgenetic metabolic diseasestandem mass spectrometryquality control
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