Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
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DOI：
10.1016/j.jchromb.2005.04.020
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发表时间：
2005-08-25
影响因子：
3
通讯作者：
Yamaguchi, S
中科院分区：
文献类型：
--
作者：
Hasegawa, Y;Iga, M;Yamaguchi, S
我们使用两种质谱方法对有机酸疾病进行产前诊断；气相色谱质谱 (GC/MS) 和串联质谱 (ESI/MS/MS)。在28例羊水检测中，11例被诊断为“受影响”。所有样本被诊断为“未受影响”的病例均在出生后经证实没有任何症状或尿液有机酸分析异常。在 I 11 个“受影响”病例中，ESI/MS/MS 漏检了 2 例，但 GC/MS 未漏检。检查羊水中代谢物的稳定性时发现，酰基肉碱在室温下1周内就会降解，而丙二酸甲酯或柠檬酸甲酯等有机酸至少可以稳定14天。同时使用两种或多种方法进行分析的产前诊断可能更可靠，但应注意样本运输条件。 (c) 2005 Elsevier B.V. 保留所有权利。
We performed prenatal diagnosis of organic acid disorders using two mass spectrometric methods; gas chromatography mass spectrometry (GC/MS) and tandem mass spectrometry (ESI/MS/MS). Of 28 cases whose amniotic fluid was tested, 11 cases were diagnosed as "affected". All cases whose samples were diagnosed as "unaffected" were confirmed to have no symptoms or abnormalities in urinary organic acid analysis after birth. Of the I 11 "affected" cases, two cases were missed by ESI/MS/MS but not by GC/MS. When the stability of metabolites in amniotic fluid was checked, it was found that acylcarnitines degraded in one week at room temperature, whereas organic acids such as methylmalonate or methylcitrate were stable for at least 14 days. Prenatal diagnosis by analysis using simultaneous two or more methods may be more reliable, though attention should be paid to sample transportation conditions. (c) 2005 Elsevier B.V. All rights reserved.