Hasegawa Yuki, Iga Misako, Kimura Masahiko, Shigematsu Yosuke, Yamaguchi Seiji
Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan.
J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):13-7. doi: 10.1016/j.jchromb.2005.04.020.
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 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.
我们使用两种质谱方法对有机酸紊乱进行产前诊断；气相色谱 - 质谱联用（GC/MS）和串联质谱（ESI/MS/MS）。在检测羊水的28例病例中，11例被诊断为“患病”。所有样本被诊断为“未患病”的病例在出生后的尿有机酸分析中均被证实没有症状或异常。在这11例“患病”病例中，有2例ESI/MS/MS漏诊但GC/MS未漏诊。当检查羊水中代谢物的稳定性时，发现酰基肉碱在室温下一周内降解，而诸如甲基丙二酸或甲基柠檬酸等有机酸至少稳定14天。尽管应注意样本运输条件，但采用两种或更多种方法同时进行分析的产前诊断可能更可靠。
