Objective To explore quality control(QC) methods of neonatal genetic metabolic disease screening of blood collecting institutions and analyze the problems found by QC, so as to standardize the screening of neonatal genetic metabolic diseases and improve service quality.

Methods 1/3 of blood sample collecting institutions were randomly selected in Jining, Shandong. 1 municipal blood sample collecting institution and its affiliated 13 institutions were selected for the municipal QC. The statistical time for quality control is from January to November 2022. Briefing, on-site inspection, questionnaire survey were used to evaluate construction and service process, quality index, etc., and the QC assessment index were scored.

Results From January to November 2022, the average screening rate of newborns in 14 blood collecting institutions was 96.83% - 100.20% in Jining City, Shangdong Province, and the tandem mass spectrometry screening rates of 25 genetic metabolic diseases were 96.37% - 99.64%. The qualifications of 57 blood collecting staff all met the standard requirements, and 53 had passed the training. The awareness rate of health education in all blood collecting institutions was 100.00%. The proportion of unqualified blood samples was 0.26% - 0.46%, the proportion of important information omission was 0.06% - 0.14%. The median delivery period of blood samples before testing was 3.5 - 4.0 days, and the timely delivery rate of blood samples was 100.00%. The positive rate of primary screening for genetic metabolic diseases was 3.82% - 6.83%, and the positive recall rate was 92.59% - 95.21%. The positive predictive value of congenital thyroid hypothyroidism, phenylketonuria, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency was 9.09% - 31.52%, the positive predictive value of tandem mass spectrum was 3.60% - 8.14%, and the false negative rate of screening was 0.00%. The QC index score of the 14 blood collecting institutions ranged from 255 to 300 points. Problems included that the blood spots collected were too small, blood samples could not naturally soak both sides of the filter paper, blood samples absorbed repeatedly, important information of newborns omitted, and suspicious positive review rate was low.

Conclusion The collection of qualified neonatal blood samples is the premise to ensure quality of genetic metabolic disease screening. Problems existing in the screening process of neonatal genetic metabolic diseases can be found and corrected timely through QC assessment of blood collecting institutions.