优化质量控制体系与评价指标对新生儿遗传代谢病筛查效率的影响分析

doi:10.12372/jcp.2024.24e0307

Abstract

Abstract:

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.

Key words: genetic metabolic disease screening, quality control, evaluation indicator, optimize, newborn

LI Qiang, CHEN Chi, ZHOU Ying, MAO Huaqing, XU Yihong, XU Yanhua. Analysis of the effect of optimized quality control system and evaluation indicators on the screening efficiency of neonatal genetic metabolic diseases[J].Journal of Clinical Pediatrics, 2024, 42(6): 515-519.

Figures/Tables 4

References 20

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年份	入选原因	优化调整情况
2013年	当年尚未建立《指标》，仅统计指标	指标包括筛查数、筛查率、召回率、血片不合格率、血片不合格数未补采率、血片迟递率
2015年	2014年建立浙江省新筛中心，并发布浙江省新筛《指标》（浙筛质控〔2014〕3号）	在2013年指标统计的基础上，增加了血片缺错项率、延期采血率2项指标，同时根据《指标》进行考核
2020年	2020年1月优化《指标》	再次进行分值优化，弱化了几达100%的筛查率分值，并对关键指标（血片不合格率、血片迟递率、召回率）加大权重分值
2023年	反映了当前浙江省新筛水平	参考2023年8月发布的《出生缺陷防治能力提升计划（2023-2027）》，增加了生后2、3、4周诊断和治疗率作为评价指标

年份	新筛率/%	P	可疑阳性患儿召回率/%	P
2013	98.98	<0.001¹⁾ 0.204²⁾	97.33	<0.001¹⁾ 0.086²⁾
2015	99.54		97.03
2020	100.72		98.83
2023	100.05		98.74

年份	血片不合格率/%	P	血片不合格数未补采率(1/10万)	P	血片迟递率 /%	P	血片缺错项率 /%	P	延期采血率 /%	P
2013	0.092	<0.001¹⁾ 0.038²⁾	2.90	0.001¹⁾ 0.040²⁾	4.49	<0.001¹⁾ 0.213²⁾	－	<0.001¹⁾ 0.003²⁾	－	0.002¹⁾ 0.831²⁾
2015	0.064		1.56		0.73		0.68		0.55
2020	0.033		0.43		0.05		0.27		0.58
2023	0.027		0.00		0.03		0.01		0.53

病种	年份	2周				3周				4周
病种	年份	诊断率 /%	P	治疗率 /%	P	诊断率 /%	P	治疗率 /%	P	诊断率 /%	P	治疗率 /%	P
CH	2013	8.04	<0.001¹⁾ 0.024²⁾	8.04	<0.001¹⁾ 0.024²⁾	49.87	<0.001¹⁾ 0.102²⁾	49.87	<0.001¹⁾ 0.102²⁾	80.16	<0.001¹⁾ 0.047²⁾	80.16	<0.001¹⁾ 0.047²⁾
	2015	15.24		15.24		70.12		70.12		86.38		86.38
	2020	21.43		21.43		74.21		74.21		89.29		89.29
	2023	32.33		32.33		82.86		82.86		93.11		93.11
PKU/ BH4D	2013	0.00	0.009¹⁾ 0.382²⁾	0.00	0.001¹⁾ 0.321²⁾	20.69	<0.001¹⁾ 0.029²⁾	24.14	0.001¹⁾ 0.010²⁾	62.07	0.009¹⁾ 0.397²⁾	75.86	0.001¹⁾ 0.290²⁾
	2015	2.33		2.33		23.26		34.88		48.84		55.81
	2020	21.05		26.32		52.63		63.16		73.68		84.21
	2023	7.41		11.11		55.56		70.37		66.67		88.89

Analysis of the effect of optimized quality control system and evaluation indicators on the screening efficiency of neonatal genetic metabolic diseases

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