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.
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