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RESEARCH PRODUCT
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
Carlos SimónAgustín BallesterosPablo VimeLeonor Puchades-carrascoM. RiquerosThomas J. JönssonImmaculada Sánchez-ribasAntonio Pineda-lucenaFrancisco Domínguezsubject
MaleDown syndromeSex Determination Analysisanimal structuresMagnetic Resonance SpectroscopyAneuploidyFertilization in VitroBiologyPreimplantation genetic diagnosisAndrosteroneGas Chromatography-Mass SpectrometryAndrologyEmbryo Culture Techniqueschemistry.chemical_compoundPredictive Value of TestsPregnancymedicineHumansMetabolomicsBlastocystCaproatesIn Situ Hybridization FluorescencePreimplantation DiagnosisGeneticsAndrosteroneObstetrics and GynecologyEmbryomedicine.diseaseAneuploidyCulture Mediamedicine.anatomical_structureBlastocystReproductive MedicinechemistryCase-Control Studiesembryonic structuresFeasibility StudiesFemaleDown SyndromeTrisomyChromosome 21BiomarkersChromatography Liquiddescription
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. Design 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). Setting IVF clinic/preimplantation genetic diagnosis (PGD) unit facilities. Patient(s) One hundred seventy-one spent media samples obtained from human IVF embryos from patients included in our PGD program. Intervention(s) Metabolomic profiling of embryo spent media using liquid chromatography/gas chromatography coupled with MS and NMR. Main Outcome Measure(s) Comparative identification of the metabolites present in the spent media from normal versus trisomy/monosomy 21 day 3 embryos. Result(s) 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. Conclusion(s) 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.
year | journal | country | edition | language |
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2012-11-01 | Fertility and sterility |