Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry.
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.
Hasegawa
Yuki
Y
Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo, Shimane 693-8501, Japan. yukirin@med.shimane-u.ac.jp
Iga
Misako
M
Kimura
Masahiko
M
Shigematsu
Yosuke
Y
Yamaguchi
Seiji
S
D000653:Amniotic Fluid / Q000737:chemistry*; D002264:Carboxylic Acids / Q000378:metabolism; D002331:Carnitine / Q000031:analogs & derivatives / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D005977:Glutarates / Q000032:analysis; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D008764:Methylmalonic Acid / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011422:Propionates / Q000032:analysis; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods; D013696:Temperature
D002264:Carboxylic Acids; D005977:Glutarates; D011422:Propionates; C003223:propionylcarnitine; D008764:Methylmalonic Acid; C035736:glutaric acid; D002331:Carnitine