Maternal Plasma and Amniotic Fluid Sphingolipids Profiling in Fetal Down Syndrome
Open Access
- 22 May 2015
- journal article
- research article
- Published by Public Library of Science (PLoS) in PLOS ONE
- Vol. 10 (5), e0127732
- https://doi.org/10.1371/journal.pone.0127732
Abstract
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). We showed a significant increase in the concentration of 2 ceramides, C22-Cer and C24:1-Cer, in the plasma of women with fetal Down syndrome. Furthermore we showed a decrease in the concentration of 7 ceramides—C16-Cer, C18-Cer, C18:1-Cer, C20-Cer, C22-Cer, C24:1-Cer, and C24-Cer—in the amniotic fluid of women with fetal Down syndrome. We created ROC curves for all significant sphingolipids in maternal plasma, which set the threshold values and allowed for predicting the likelihood of Down syndrome in the fetus with specific sensitivity and specificity. We demonstrated a significantly higher risk of Down syndrome when the plasma concentration of C22-Cer > 12.66 ng/100ul (sens. 0.9, sp. 0.79, P value = 0.0007) and C24:1-Cer > 33,19 ng/100ul (sens. 0.6, sp. 0.86, P value = 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.Keywords
This publication has 29 references indexed in Scilit:
- Myocardial infarction differentially alters sphingolipid levels in plasma, erythrocytes and platelets of the ratBasic Research in Cardiology, 2012
- A liquid chromatography/tandem mass spectrometry method for measuring the in vivo incorporation of plasma free fatty acids into intramyocellular ceramides in humansRapid Communications in Mass Spectrometry, 2012
- Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomyPrenatal Diagnosis, 2012
- Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingAmerican Journal of Obstetrics and Gynecology, 2011
- pROC: an open-source package for R and S+ to analyze and compare ROC curvesBMC Bioinformatics, 2011
- Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyBMJ, 2011
- Impairment of circulating endothelial progenitors in Down syndromeBMC Medical Genomics, 2010
- Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populationsAmerican Journal of Medical Genetics Part A, 2009
- Circulating Pro- and Anti-inflammatory Cytokines in Polish Women with Gestational DiabetesHormone and Metabolic Research, 2008
- Epidemiology of Down syndromeMental Retardation and Developmental Disabilities Research Reviews, 2007