Reliable prenatal diagnosis of Canavan disease by measuring <i>N</i>‐acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry

Abstract

We developed a new method that enables reliable, sensitive, and selective determination of NAA in a small volume of amniotic fluid for the prenatal diagnosis of Canavan disease. The simple sample preparation adopted in this work precluded the necessity for extraction and derivatization.