Differential metabolic profiling of non pure trisomy 21 human preimplantation embryos

We aim to investigate the metabolomic signature of trisomy 21 human embryos, suggesting that differential metabolomic markers found in spent media could be used for chromosomal embryo selection.

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Immaculada Sanchez Ribas, M.D., Marisa Riqueros, B.Sc., Pablo Vime, Ph.D., Leonor Puchades-Carrasco, Ph.D., Thomas Jönsson, Ph.D., Antonio Pineda-Lucena, Ph.D., Agustín Ballesteros, M.D., Francisco Dominguez, Ph.D., Carlos Simon, M.D.

Vol 98, Issue 5, Pages 1157-1164.e2



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.


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).


IVF clinic/preimplantation genetic diagnosis (PGD) unit facilities.


One hundred seventy-one spent media samples obtained from human IVF embryos from patients included in our PGD program.


Metabolomic profiling of embryo spent media, using liquid chromatography/gas chromatography coupled to MS and NMR.

Main Outcome:

Comparative identification of the metabolites present in the spent media from normal versus trisomy/monosomy 21 day 3 embryos.


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.


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 prior to embryo transfer.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)01953-X/fulltext

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.