Maternal Plasma and Amniotic Fluid Sphingolipids Profiling in Fetal Down Syndrome

Sphingolipids can be potentially involved in the formation of the central and peripheral nervous systems, which are particularly connected with the pathogenesis of Down syndrome. The aim of the study was to determine the concentration of selected sphingolipids in the plasma and amniotic fluid of pregnant patients with fetal Down syndrome.Out of 190 amniocentesis we had 10 patients with confirmed Down syndrome. For the purpose of our control we chose 14 women without confirmed chromosomal aberration. To assess the concentration of 11 sphingolipids in the blood plasma and amniotic fluid we used an ultra-high performance liquid chromatography coupled with triple quadrupole mass spectrometry (UHPLC/MS/MS). = 0.0194).On the basis of our findings, it seems that the sphingolipids may play a role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on a larger group of patients