title: Metabolomic analysis for first-trimester Down syndrome prediction.
abstract: OBJECTIVE
  The objective of the study was to perform first-trimester maternal serum metabolomic analysis and compare the results in aneuploid vs Down syndrome (DS) pregnancies.
  
  
  METHODS
  This was a case-control study of pregnancies between 11+0 and 13+6 weeks. There were 30 DS cases and 60 controls in which first-trimester maternal serum was analyzed. Nuclear magnetic resonance-based metabolomic analysis was performed for DS prediction.
  
  
  RESULTS
  Concentrations of 11 metabolites were significantly different in the serum of DS pregnancies. The combination of 3-hydroxyisovalerate, 3-hydroxybuterate, and maternal age had a 51.9% sensitivity at 1.9% false-positive rate for DS detection. One multimarker algorithm had 70% sensitivity at 1.7% false-positive rate. Novel markers such as 3-hydroxybutyrate, involved in brain growth and myelination, and 2-hydroxybutyrate, involved in the defense against oxidative stress, were found to be abnormal.
  
  
  CONCLUSIONS
  The study reports novel metabolomic markers for the first-trimester prediction of fetal DS. Metabolomics provided insights into the cellular dysfunction in DS.
authors: Department of Obstetrics and Gynecology, Oakland University -William Beaumont School of Medicine, Royal Oak, MI, USA.
authors: Ray O
authors: RO
authors: Bahado-Singh
authors: Ranjit
authors: R
authors: Akolekar
authors: Rupasri
authors: R
authors: Mandal
authors: Edison
authors: E
authors: Dong
authors: Jianguo
authors: J
authors: Xia
authors: Michael
authors: M
authors: Kruger
authors: David S
authors: DS
authors: Wishart
authors: Kypros
authors: K
authors: Nicolaides
mesh_terms: D000328:Adult; D000465:Algorithms; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D003661:Decision Support Techniques; D004314:Down Syndrome / Q000175:diagnosis*; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D016015:Logistic Models; D009682:Magnetic Resonance Spectroscopy; D062145:Maternal Serum Screening Tests / Q000379:methods*; D055432:Metabolomics; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000097:blood*; D025341:Principal Component Analysis; D011446:Prospective Studies; D012372:ROC Curve; D012680:Sensitivity and Specificity
chemical_list: D015415:Biomarkers