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Updated: May 18, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
Published on: September 7, 2021
Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos
Immaculada Sánchez-Ribas1, Marissa Riqueros, Pablo Vime
1IVI Barcelona, Barcelona, Spain.
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.

