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MOSAICISM: Different distribution of the abnormal cells
ICM/TE Mosaic TE Mosaic ICM Mosaic Total Mosaic
ICM: Inner Cell Mass TE: Trophectoderm
Vera-Rodriguez et al, F&S, 2017
Misdiagnoses
- Mosaicism never detectable in TE -
Misdiagnoses
- Mosaicism never detectable in TE -
PGD-A accuracy
Variable
- Depending on biopsy location and degree of mosaicism
Misdiagnoses
- Mosaicism never detectable in TE -
Variable
- Depending on biopsy location and degree of mosaicism
How to perform aneuploidy testing in embryos
Conventional Preimplantation Genetic Testing for Aneuploidies (PGT-A)
Non-invasive methods
for Aneuploidy Testing (niPGT-A)
Blastocyst biopsy Day 5-6
5-8 trophectoderm cells NGS
Embryos cultured from day 4-6
Cell-free DNA released to the media
NGS
NGS trophectoderm biopsy
45,XX,-16
NGS in spent culture media
45,XX,-16
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