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vs.
FALSE POSITIVES AND FALSE NEGATIVES
TE biopsy
46 XY
Embryonic cfDNA SBM
45 XY, ‐10
Euploid- Aneuploid
MOSAICISM?
TE biopsy
45 XX, ‐16
Embryonic cfDNA SBM
46 XX
MOSAICISM? External or Maternal cell contamination (cumulus)?
Aneuploid- Euploid
Summary
Human embryos release cell-free DNA into the culture media throughout their development.
The origin of the cell-free DNA is still unknown and if it corresponded to ICM, TE or both.
This cell-free DNA can be amplified and analysed to study the chromosomal status of the embryos as a niPGT-A approach.
Concordance rates between TE biopsies and culture media can be higher than 80%.
External and MCC could be the main causes of false negatives and maybe mosaicism.
False positives could result from mosaicism, and maybe they offer a more comprehensive idea of the chromosomal content of the blastocysts.
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PRECONGRESS COURSE 10 I VIENNA, AUSTRIA – 23 JUNE 2019 135