AB101. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method DNA mass spectrometry

摘要

BackgroundUntil July 2016, more than 916,000 newborns have been screened for Fabry disease by our team. From our estimation, around 80% female newborns will be missed by our current enzyme-based screening. However, female carriers of Fabry disease may still develop severe morbidity and mortality, so our team developed a cost-effective screening method for female newborns with Fabry disease.