title: Maternal plasma and amniotic fluid sphingolipids profiling in fetal Down syndrome.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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).
  
  
  RESULTS
  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/100 ul (sens. 0.9, sp. 0.79, P value = 0.0007) and C24:1-Cer > 33,19 ng/100 ul (sens. 0.6, sp. 0.86, P value = 0.0194).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Perinatology and Obstetrics, Medical University of Bialystok, Marii Sklodowskiej-Curie 24a, Bialystok, 15-276, Poland.
authors.forename: Karol
authors.initials: K
authors.lastname: Charkiewicz
authors.affiliation: Department of Physiology, Medical University of Bialystok, Mickiewicza 2C, Bialystok, 15-222, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Blachnio-Zabielska
authors.affiliation: Department of Reproduction and Gynecological Endocrinology, Medical University of Bialystok, Marii Sklodowskiej Curie 24a, Bialystok, 15-273, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Zbucka-Kretowska
authors.affiliation: Department of Reproduction and Gynecological Endocrinology, Medical University of Bialystok, Marii Sklodowskiej Curie 24a, Bialystok, 15-273, Poland.
authors.forename: Slawomir
authors.initials: S
authors.lastname: Wolczynski
authors.affiliation: Department of Perinatology and Obstetrics, Medical University of Bialystok, Marii Sklodowskiej-Curie 24a, Bialystok, 15-276, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Laudanski
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000378:metabolism*; D004314:Down Syndrome / Q000378:metabolism*; D005260:Female; D006801:Humans; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013107:Sphingolipids / Q000097:blood / Q000378:metabolism*
chemical_list: D013107:Sphingolipids