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发育医学电子杂志  2024, Vol. 12 Issue (1): 7-12    DOI: 10.3969/j.issn.2095-5340.2024.01.002
  临床遗传   论著 |
串联质谱联合气相质谱在新生儿重症监护病房遗传代谢病筛查诊断中的应用价值
闫磊  张万巧 张玉佩 陈雨晗 梅亚波
(解放军总医院儿科医学部 解放军总医院第七医学中心儿科研究所 出生缺陷防控关键技术国家工程实验室 儿童器官功能衰竭北京市重点实验室,北京 100700)
Application value of tandem mass spectrometry combined with gas phase mass spectrometry in screening and diagnosis of inherited metabolic diseases in neonatal intensive care unit
Yan Lei, Zhang Wanqiao, Zhang Yupei, et al
(Beijing Key Laboratory of Pediatric OrganFailure, National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology,Institute of Pediatrics, the Seventh Medical Center of PLA General Hospital, Faculty of Pediatrics, the Chinese PLA General Hospital, Beijing 100700, China)
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摘要 【摘要】 目的  探讨串联质谱(tandem mass spectrometry,MS/MS)联合气相质谱(gas phase mass
spectrometry,GC-MS)在新生儿重症监护病房(neonatal intensive care unit,NICU)遗传代谢病(inherited metabolic disorders,IMD)筛查诊断中的应用价值。 方法 选取2020 年1 月至2021 年12 月解放军总医院第七医学中心NICU 收治的3 682 例新生儿(其中足月儿1 794 例,早产儿1 888 例)为观察对
象,采集干血斑行MS/MS 遗传代谢病筛查。初次筛查阳性者重新采样复查并行尿液GC-MS 检测。根据患儿代谢谱结合临床表现进行生化诊断。统计学方法采用χ2 检验。 结果  3 682 例NICU 患儿中初筛阳性率为5.65%(208/3 682),复筛阳性率为1.33%(49/3 682),共生化诊断IMD 患儿14 例,总检出率为0.38%(14/3 682),其中足月儿检出率高于早产儿[0.67%(12/1 794)与0.11%(2/1 888),
χ2=7.697,P=0.006]。14 例IMD 中,有机酸代谢异常11 例,包括甲基丙二酸血症8 例(57.1%)、戊二
酸血症2 例(14.3%)、3- 甲基戊二烯酸尿症1 例(7.1%);氨基酸代谢异常3 例,包括尿素循环障碍2 例
(14.3%)、高苯丙氨酸血症1 例(7.1%)。MS/MS 初筛假阳性率为5.29%(194/3 668),阳性预测值为6.73%(14/208)。召回复查后,二次MS/MS 复测,假阳性率为0.95%(35/3 668),阳性预测值为28.57%(14/49)。在各类MS/MS 指标异常中,丙酰肉碱及其比值增高、戊二酰肉碱增高的阳性预测值高于氨基酸类代谢异常。 结论 NICU 人群IMD 发病率较高,且存在早产、感染等多种非遗传因素,干扰MS/MS 代谢筛查结果。及时进行MS/MS 复查及尿GC-MS 分析可以提高诊断效率,明确生化诊断。
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关键词:  新生儿筛查  遗传代谢病  串联质谱  气相质谱  新生儿重症监护病房    
Abstract: 【Abstract】 Objective To investigate the application value of tandem mass spectrometry (MS/MS)
combined with gas phase mass spectrometry (GC-MS) in screening and diagnosis of inherited metabolic
disorders (IMD) in neonatal intensive care unit (NICU). Method From January 2020 to December
2021, 3 682 neonates (1 794 full-term infants and 1 888 premature infants) admitted to NICU, the Seventh Medical Center of PLA General Hospital were selected as the observation objects. Dry blood plaques were collected and screened for MS/MS genetic metabolic disease. Urine GC-MS was detected in the neonates with positive samples after initial screening. Biochemical diagnosis was made according to metabolic profile and clinical manifestations. Statistical method performed by χ2 test. Result Among the 3 682 NICU infants, the positive rate of primary screening was 5.65% (208/3 682), and the positive rate of secondary screening was 1.33% (49/3 682). There were 14 cases with co-biochemical diagnosis of IMD, and the total detection rate was 0.38% (14/3 682). The detection rate of full-term infants was higher than that of preterm infants [0.67% (12/1 794) vs 0.11% (2/1 888), χ2=7.697, P=0.006]. Among the 14 cases of IMD, 11 cases had abnormal organic acid metabolism, including 8 cases (57.1%) of methylmalonate acidemia, 2 cases (14.3%) of glutaracidemia and 1 case of 3-methylpentadienuria (7.1%). There were 3 cases of abnormal amino acid metabolism, including 2 cases (14.3%) of urea cycle disorder and 1 case (7.1%) of hyperphenylalaninemia. The false positive rate of MS/MS preliminary screening was 5.29% (194/3 668), and the positive predictive value was 6.73% (14/208). After the recall, the false positive rate was 0.95% (35/3 668), and the positive predictive value was 28.57% (14/49). The positive predictive value of increased propionylcarnitine and its ratio and glutarylcarnitine was higher than that of abnormal amino acid metabolism among various MS/MS indexes. Conclusion The incidence of IMD in NICU population is high, and there are many nongenetic factors such as preterm birth and infection, which can interfere with the results of MS/MS metabolic screening. Timely MS/MS reexamination and urine GC-MS analysis can improve diagnostic efficiency and clarify biochemical diagnosis.

Key words:  Newborn screening    Inherited metabolic disorders    Tandem mass spectrometry    Gas phase mass spectrometry    Neonatal intensive care
收稿日期:  2023-04-13                     发布日期:  2024-01-31     
基金资助: 国家自然科学基金(81901518);中华国际医学交流基金会新生儿青年医师科研基金(Z-2019-41-2101-04)
通讯作者:  张万巧    E-mail:  zwqiao23@163.com
引用本文:    
闫磊  张万巧 张玉佩 陈雨晗 梅亚波. 串联质谱联合气相质谱在新生儿重症监护病房遗传代谢病筛查诊断中的应用价值[J]. 发育医学电子杂志, 2024, 12(1): 7-12.
Yan Lei, Zhang Wanqiao, Zhang Yupei. et al. Application value of tandem mass spectrometry combined with gas phase mass spectrometry in screening and diagnosis of inherited metabolic diseases in neonatal intensive care unit. Journal of Developmental Medicine(Electronic Version), 2024, 12(1): 7-12.
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