Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.

Objective: Prenatal diagnosis of Canavan disease by measuring N-acetylaspartic acid (NAA) in amniotic fluid is reliable and preferred over aspartoacylase enzyme assay especially in populations with unknown mutations. Typically based on GC-MS, existing methods are time-consuming and laborious. We developed a novel LC-MS/MS method for determination of NAA in amniotic fluid with minimal sample preparation.