Differential metabolic profiling of non pure trisomy 21 human preimplantation embryos

Capsule:
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.

Authors:
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.

Volume 98, Issue 5, Pages 1157-1164.e2, November 2012

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.

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.

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

Interventions:
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.

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 prior to embryo transfer.

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