| 蔡 娜,谢 云,马晓萍,宋成荣,强 荣.串联质谱技术在新生儿遗传代谢病筛查中的临床应用研究[J].,2017,17(31):6083-6087 |
| 串联质谱技术在新生儿遗传代谢病筛查中的临床应用研究 |
| The Clinical Application Research of Tandem Mass Spectrometry in Neonatal Genetic Metabolic Disease Screening |
| 投稿时间：2017-04-16 修订日期：2017-05-10 |
| DOI：10.13241/j.cnki.pmb.2017.31.019 |
| 中文关键词: 遗传代谢病 新生儿 串联质谱 疾病筛查 氨基酸 |
| 英文关键词: Genetic metabolic disease Neonatal Tandem mass Disease screening Amino acids |
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| 中文摘要: |
| 摘要 目的：探讨串联质谱技术筛查新生儿遗传代谢病的发生率及确诊病例情况，为其临床应用提供参考。方法：回顾性分析2013年5月~2016年12月在本院疾病筛查中心采用串联质谱技术进行遗传代谢病筛查的27217例新生儿的临床资料，记录串联质谱技术筛查的可疑阳性患者及确诊情况，剔除确诊患儿后，分别根据新生儿胎龄、出生体重、采血时间进行分组，比较各组新生儿各种氨基酸水平。结果：本研究中27217例新生儿，串联质谱筛查为可疑阳性的占1.69%（459/27217），确诊14例，发生率为0.05%（14/27217）；剔除确诊新生儿后，早产组与足月组新生儿体内丙氨酸（ALA）、甲硫氨酸（MET）浓度比较无统计学意义（P>0.05），出生体重≤2500 g组与＞2500 g组新生儿体内MET、鸟氨酸（ORN）、瓜氨酸（CIT）浓度比较差异无统计学意义（P>0.05），采血时间3~7 d组与＞7 d组新生儿体内脯氨酸（PRO）浓度比较差异无统计学意义（P>0.05）。除以上几种外，其余各种氨基酸浓度早产组与足月组比较、出生体重≤2500 g组与＞2500 g组比较、采血时间3~7 d组与＞7 d组比较,差异均有统计学意义（P<0.05）。结论：串联质谱检测可早期发现新生儿遗传代谢病，但应根据新生儿胎龄、出生体重、采血时间确定截断值，以降低假阳性率。 |
| 英文摘要: |
| ABSTRACT Objective: To explore the tandem mass spectrometry screening the incidence of neonatal hereditary metabolic disease and confirmed cases, and to provide a reference for its clinical application. Methods: Retrospective analysis the 27217 cases neonatal who were used tandem mass spectrometry to inherited metabolic disease in our hospital from May 2013 to December 2016, records of tandem mass spectrometry screening suspected and confirmed positive patients. They were divided into groups according to the gesta- tional age, birth weight, blood sampling time respectively after eliminating neonatal diagnosis. The levels of amino acids in each group were compared. Results: In this study, 27217 cases of newborn, tandem mass spectrometry screening for suspicious positive accounted for 1.69% (459/27217), 14 cases confirmed, incidence was 0.05%(14/27217); After eliminating neonatal diagnosis, there were no signifi- cant differences in concentrations of alanine(ALA) and methionine(MET) in newborn between preterm group and full-term group(P>0.05), there were no significant differences in concentrations of MET, ornithine (ORN) and citrulline (CIT) in newborn between the birth weight≤2500 g group and＞2500 g group(P>0.05), there was no significant difference in the concentration of proline in newborn be- tween blood sampling time 3~7 d group and ＞7 d group(P>0.05). In addition to the above, the rest of the all kinds of amino acid concen- tration in preterm labor group compared with full-term newborn group, ≤2500g group compared with >2500 g group, blood sampling time 3~7 d group compared with >7 d group, differences were statistically significant(P<0.05). Conclusion: Tandem mass spectrometry can be found neonatal hereditary metabolic disease early, but should according to gestational age, birth weight, time of blood sampling to determine the cutoff value, in order to reduce false positive rate. |
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