Clinical value of tandem mass spectrometry in neonatal genetic metabolic disease screening in Yangzhou area_West China Medical Journal

Authors：

ZHANG Po , CHEN Qiu , JIANG Yuepeng , WU Xinping , XU Guijiang , WEI Wenli ,  HU Suwei

Medical Genetics Center, Yangzhou Matemal and Child Care Service Centre, the Affiliated Hospital of Yangzhou University Medical College, Yangzhou, Jiangsu 225002, P. R. China;

Corresponding author：

HU Suwei, Email: husuwei2004@126.com

Keywords：

Tandem mass spectrometry; genetic metabolic disorders; Yangzhou area; neonatal disease screening

DOI：

10.7507/1002-0179.202007074

Video：

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Objective To explore the clinical significance of tandem mass spectrometry in neonatal genetic metabolic diseases screening in Yangzhou area. Methods The neonates in Yangzhou area between July 2017 and December 2019 were screened for genetic metabolic disorders by tandem mass spectrometry. Genetic test was offered if the screening results were suspiciously positive. Results A total of 25 771 neonates were included. Among them, 435 were positive in primary screening, 394 were recalled for retesting and 17 cases were confirmed. Among the confirmed cases, there were 10 cases of amino acid metabolism, 3 cases of organic acid metabolism, 4 cases of fatty acid oxidation metabolism and 3 cases of death. Conclusion The tandem mass spectrometry technology is widely used in the screening of amino acid metabolism, organic acid metabolism and fatty acid oxidation metabolism in neonates, which plays an important role in the early neonatal screening, diagnosis and treatment of genetic metabolic diseases.

Citation： ZHANG Po, CHEN Qiu, JIANG Yuepeng, WU Xinping, XU Guijiang, WEI Wenli, HU Suwei. Clinical value of tandem mass spectrometry in neonatal genetic metabolic disease screening in Yangzhou area. West China Medical Journal, 2022, 37(3): 419-423. doi: 10.7507/1002-0179.202007074 Copy

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19.	王彦云, 孙云, 蒋涛. 串联质谱技术检测羊水中丙酰基肉碱在甲基丙二酸血症产前诊断中的价值. 临床检验杂志, 2019, 37(6): 428-429.
20.	卢东裕, 田明新, 张道杰. 56 例甲基丙二酸血症患儿的临床和串联质谱及气相色谱数据分析. 中国优生与遗传杂志, 2015, 23(10): 16-19, 15.
21.	Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.

1. 刘齐, 武红梅, 刘翼飞, 等. 串联质谱在新生儿遗传代谢疾病筛查中的应用. 中华检验医学杂志, 2019, 42(6): 403-406.
2. 吴玲玲, 徐艳华, 赵正言. 我国新生儿疾病筛查的发展与展望. 实用儿科临床杂志, 2009, 24(11): 805-808.
3. 刘祥举. 串联质谱技术在新生儿遗传代谢病筛查中的应用. 中国优生与遗传杂志, 2019, 27(8): 964-965.
4. 国家卫健委临床检验中心新生儿疾病筛查室间质量评价委员会. 新生儿疾病筛查滤纸血片采集和递送及保存专家共识. 中华检验医学杂志, 2019, 42(10): 836-840.
5. 朱峰, 许佳, 董丽萍, 等. 25243 例患者的串联质谱技术新生儿遗传代谢病筛查分析. 滨州医学院学报, 2015, 38(4): 300-302.
6. Yang CJ, Wei N, Li M, et al. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100, 077 newborns from Jining city in China. BMC Pediatr, 2018, 18(1): 110.
7. 黄新文, 杨建滨, 童凡, 等. 串联质谱技术对新生儿遗传代谢病的筛查及随访研究. 中华儿科杂志, 2011, 49(10): 765-770.
8. 蒙娟. 串联质谱技术检测遗传代谢病的临床应用. 世界最新医学信息文摘 (连续型电子期刊), 2019, 19(94): 30-31.
9. 周伟, 王传霞, 李惠中, 等. 串联质谱技术在徐州地区新生儿遗传代谢病筛查中的临床应用. 国际遗传学杂志, 2018, 41(2): 119-123.
10. Moseilhy A, Hassan MM, El Abd HS, et al. Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene. Metab Brain Dis, 2017, 32(1): 35-40.
11. 鄂慧姝, 韩连书. 戊二酸血症Ⅰ型的诊治、筛查及产前诊断. 发育医学电子杂志, 2018, 6(1): 20-24.
12. Olivera-Bravo S, Ribeiro CA, Isasi E, et al. Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia typeⅠ. Hum Mol Genet, 2015, 24(16): 4504-4515.
13. Olivera-Bravo S, Isasi E, Fernández A, et al. White matter injury induced by perinatal exposure to glutaric acid. Neurotox Res, 2014, 25(4): 381-391.
14. 林壹明, 韩明亚, 郑珍珠, 等. 五例戊二酸血症Ⅰ型患者 GCDH 基因突变的分子诊断. 中华医学遗传学杂志, 2018, 35(1): 39-42.
15. 陆璐, 马定远, 成建. 戊二酸血症Ⅰ型患儿家系基因变异检测及产前诊断. 临床儿科杂志, 2020, 38(3): 225-228.
16. 韩连书. 质谱技术在遗传代谢病及产前诊断中的应用. 中华检验医学杂志, 2017, 40(10): 761-765.
17. 孙英梅, 于春冬, 王彩娟, 等. 新生儿短链酰基辅酶 A 脱氢酶缺乏症 4 例临床特征及基因突变分析. 基础医学与临床, 2019, 39(11): 1574-1577.
18. 王丽雯, 倪敏, 贾晨路, 等. 应用串联质谱技术进行河南省新生儿甲基丙二酸血症的筛查结果分析. 中国优生与遗传杂志, 2019, 27(7): 846-848.
19. 王彦云, 孙云, 蒋涛. 串联质谱技术检测羊水中丙酰基肉碱在甲基丙二酸血症产前诊断中的价值. 临床检验杂志, 2019, 37(6): 428-429.
20. 卢东裕, 田明新, 张道杰. 56 例甲基丙二酸血症患儿的临床和串联质谱及气相色谱数据分析. 中国优生与遗传杂志, 2015, 23(10): 16-19, 15.
21. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17(5): 405-424.

West China Medical Journal

Clinical value of tandem mass spectrometry in neonatal genetic metabolic disease screening in Yangzhou area

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