title: Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
abstract: OBJECTIVE
  To investigate the metabolomic signature of trisomy 21 preimplantation human embryos by a noninvasive approach using mass spectrometry- (MS-) and nuclear magnetic resonance spectroscopy- (NMR-) based metabolic profiling platforms.
  
  
  METHODS
  A total of 171 spent media samples were collected from day 3 embryos and comparatively analyzed by MS analysis (chromosomally normal embryos, n = 15; trisomy 21 embryos, n = 15) and a matched control media group (without embryo, n = 14) and by NMR spectroscopy (normal embryos, n = 39; trisomy 21 embryos, n = 35; monosomy 21 embryos, n = 24) and a matched control media group (without embryo, n = 29).
  
  
  METHODS
  IVF clinic/preimplantation genetic diagnosis (PGD) unit facilities.
  
  
  METHODS
  One hundred seventy-one spent media samples obtained from human IVF embryos from patients included in our PGD program.
  
  
  METHODS
  Metabolomic profiling of embryo spent media using liquid chromatography/gas chromatography coupled with MS and NMR.
  
  
  METHODS
  Comparative identification of the metabolites present in the spent media from normal versus trisomy/monosomy 21 day 3 embryos.
  
  
  RESULTS
  Two metabolites, caproate and androsterone sulphate, and two unknown compounds were differentially expressed between normal and trisomy 21 day 3 embryos. Furthermore, the NMR results indicate that there could be a correlation between the differences found between trisomy 21/monosomy 21 and the normal embryos in a spectral region compatible with isoleucine.
  
  
  CONCLUSIONS
  This study suggests that the use of differential metabolomic markers found in spent media from preimplantation embryos could be a feasible method for the detection of aneuploidies before ET.
authors.affiliation: IVI Barcelona, Barcelona, Spain.
authors.forename: Immaculada
authors.initials: I
authors.lastname: Sánchez-Ribas
authors.forename: Marissa
authors.initials: M
authors.lastname: Riqueros
authors.forename: Pablo
authors.initials: P
authors.lastname: Vime
authors.forename: Leonor
authors.initials: L
authors.lastname: Puchades-Carrasco
authors.forename: Thomas
authors.initials: T
authors.lastname: Jönsson
authors.forename: Antonio
authors.initials: A
authors.lastname: Pineda-Lucena
authors.forename: Agustín
authors.initials: A
authors.lastname: Ballesteros
authors.forename: Francisco
authors.initials: F
authors.lastname: Domínguez
authors.forename: Carlos
authors.initials: C
authors.lastname: Simón
mesh_terms: D000738:Androsterone / Q000031:analogs & derivatives / Q000378:metabolism; D000782:Aneuploidy; D015415:Biomarkers / Q000378:metabolism; D001755:Blastocyst / Q000378:metabolism*; D002208:Caproates / Q000378:metabolism; D016022:Case-Control Studies; D002853:Chromatography, Liquid; D003470:Culture Media / Q000378:metabolism; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D046149:Embryo Culture Techniques; D005240:Feasibility Studies; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D055432:Metabolomics; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D012732:Sex Determination Analysis
chemical_list: D015415:Biomarkers; D002208:Caproates; D003470:Culture Media; D000738:Androsterone; C026905:androsterone sulfate