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vs. SOME CHROMOSOMES CONCORDANT
TE biopsy
45 XY, ‐13
Embryonic cfDNA SBM
46 XY, ‐1q
Aneuploid- Aneuploid
MOSAICISM?
TE biopsy
49 XY, +4, +13, +21
Embryonic cfDNA SBM chaotic, XY
Degraded DNA = Non-informative
Aneuploid- Chaotic
vs.
CONCORDANT BUT DIFFERENT GENDER
TE biopsy
46 XY
TE biopsy
46 XX
Euploid XY- Euploid XX
Maternal cell contamination
TE biopsy
46 XX
Embryonic cfDNA SBM
46 XY
External contamination
Euploid XX- Euploid XY
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