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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11.	鄂慧姝, 韓連書. 戊二酸血癥Ⅰ型的診治、篩查及產前診斷. 發育醫學電子雜志, 2018, 6(1): 20-24.
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19.	王彥云, 孫云, 蔣濤. 串聯質譜技術檢測羊水中丙酰基肉堿在甲基丙二酸血癥產前診斷中的價值. 臨床檢驗雜志, 2019, 37(6): 428-429.
20.	盧東裕, 田明新, 張道杰. 56 例甲基丙二酸血癥患兒的臨床和串聯質譜及氣相色譜數據分析. 中國優生與遺傳雜志, 2015, 23(10): 16-19, 15.
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1. 劉齊, 武紅梅, 劉翼飛, 等. 串聯質譜在新生兒遺傳代謝疾病篩查中的應用. 中華檢驗醫學雜志, 2019, 42(6): 403-406.
2. 吳玲玲, 徐艷華, 趙正言. 我國新生兒疾病篩查的發展與展望. 實用兒科臨床雜志, 2009, 24(11): 805-808.
3. 劉祥舉. 串聯質譜技術在新生兒遺傳代謝病篩查中的應用. 中國優生與遺傳雜志, 2019, 27(8): 964-965.
4. 國家衛健委臨床檢驗中心新生兒疾病篩查室間質量評價委員會. 新生兒疾病篩查濾紙血片采集和遞送及保存專家共識. 中華檢驗醫學雜志, 2019, 42(10): 836-840.
5. 朱峰, 許佳, 董麗萍, 等. 25243 例患者的串聯質譜技術新生兒遺傳代謝病篩查分析. 濱州醫學院學報, 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. 黃新文, 楊建濱, 童凡, 等. 串聯質譜技術對新生兒遺傳代謝病的篩查及隨訪研究. 中華兒科雜志, 2011, 49(10): 765-770.
8. 蒙娟. 串聯質譜技術檢測遺傳代謝病的臨床應用. 世界最新醫學信息文摘 (連續型電子期刊), 2019, 19(94): 30-31.
9. 周偉, 王傳霞, 李惠中, 等. 串聯質譜技術在徐州地區新生兒遺傳代謝病篩查中的臨床應用. 國際遺傳學雜志, 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, 韓連書. 戊二酸血癥Ⅰ型的診治、篩查及產前診斷. 發育醫學電子雜志, 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, 韓明亞, 鄭珍珠, 等. 五例戊二酸血癥Ⅰ型患者 GCDH 基因突變的分子診斷. 中華醫學遺傳學雜志, 2018, 35(1): 39-42.
15. 陸璐, 馬定遠, 成建. 戊二酸血癥Ⅰ型患兒家系基因變異檢測及產前診斷. 臨床兒科雜志, 2020, 38(3): 225-228.
16. 韓連書. 質譜技術在遺傳代謝病及產前診斷中的應用. 中華檢驗醫學雜志, 2017, 40(10): 761-765.
17. 孫英梅, 于春冬, 王彩娟, 等. 新生兒短鏈酰基輔酶 A 脫氫酶缺乏癥 4 例臨床特征及基因突變分析. 基礎醫學與臨床, 2019, 39(11): 1574-1577.
18. 王麗雯, 倪敏, 賈晨路, 等. 應用串聯質譜技術進行河南省新生兒甲基丙二酸血癥的篩查結果分析. 中國優生與遺傳雜志, 2019, 27(7): 846-848.
19. 王彥云, 孫云, 蔣濤. 串聯質譜技術檢測羊水中丙酰基肉堿在甲基丙二酸血癥產前診斷中的價值. 臨床檢驗雜志, 2019, 37(6): 428-429.
20. 盧東裕, 田明新, 張道杰. 56 例甲基丙二酸血癥患兒的臨床和串聯質譜及氣相色譜數據分析. 中國優生與遺傳雜志, 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

Abstract Full text Figures/Tables Video References Cited by

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