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Updated: Mar 9, 2026
Epigenetic Regulation of Cardiac Differentiation of Embryonic Stem Cells and Tissues
Published on: June 3, 2016
Extracellular embryo genomic DNA and its potential for genotyping applications
Luca Galluzzi1, Simone Palini2, Silvia De Stefani2
1Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', 61029 Urbino (PU), Italy; Department of Biomolecular Sciences, University of Urbino 'Carlo Bo', 61029 Urbino (PU), Italy.
Background:
Preimplantation genetic diagnosis (PGD) currently relies on biopsy of one or few embryo cells. Our aim was to evaluate the embryo extracellular matrices (spent medium and blastocoele fluid) as source of DNA for embryo genotyping.
Results/Methodology:
We first evaluated the amplifiability and the amount of genomic DNA in spent embryo culture media from day 3 (n = 32) and day 5/6 (n = 54). Secondly, we evaluated the possibility to genotype the MTHFR polymorphism C677T from media at day 5/6 (n = 8) and blastocoele fluids (n = 9) by direct sequencing. The C677T polymorphism detection rate was 62.5 and 44.4% in medium and fluid, respectively.
Conclusion:
A noninvasive approach for embryo genotyping was possible, but still with limitations due to low detection rate and possible allele dropout.
