title: A rapid and quantitative mass spectrometry method for determining the concentration of acylcarnitines and aminoacids in amniotic fluid.
abstract: We describe a quantitative, rapid, sensitive and reproducible tandem mass spectrometry (MSMS) method for the one-step detection of aminoacid (AAs) and acylcarnitine (ACs) concentrations in amniotic fluid. This technology is quicker and more sensitive than other methods used to date since it is possible to determine very low AA and AC concentrations in samples simultaneously in a single run. The high degree of automation allows a large number of pregnancies to be screened for metabolic defects in a very short time.
authors.affiliation: Servizio di Genetica Medica, IRCCS Burlo Garofolo, Via dell'Istria 5/1, 34137 Trieste, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Braida
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.forename: M
authors.initials: M
authors.lastname: Boniotto
authors.forename: A
authors.initials: A
authors.lastname: Luchesi
authors.forename: U
authors.initials: U
authors.lastname: de Vonderweid
authors.forename: B
authors.initials: B
authors.lastname: Casetta
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
mesh_terms: D000596:Amino Acids / Q000032:analysis*; D000653:Amniotic Fluid / Q000378:metabolism*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000032:analysis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods / Q000592:standards; D008659:Metabolic Diseases / Q000175:diagnosis*; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000592:standards*; D012680:Sensitivity and Specificity
chemical_list: D000596:Amino Acids; C116917:acylcarnitine; D002331:Carnitine