PGS盲點在於鑲嵌化胚胎，準確率(TE & whole blasotcyst cell 染色體一致)僅40%
Consistency between chromosomal status analysis of biopsied human blastocyst trophectoderm cells and whole blastocyst cells
Harunori Takahashi and Kazumasa Takahashi contributed equally as a first author.
Funding information:
This work was supported by JSPS KAKENHI (https://jsps.go.jp/english/index.html) (Grant Number 18H02942). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript
Purpose
This study investigated the consistency between results of preimplantation genetic testing for aneuploidy performed on trophectoderm (TE) cells and remaining blastocyst cells.
Methods
TE biopsy was performed on 29 surplus cryopreserved human blastocysts. Biopsy samples and remaining blastocysts were processed using the VeriSeq PGS kit, and chromosomal statuses were compared by next-generation sequencing.
Results
Discordance was observed in the chromosomal status of 11 out of 29 blastocysts between the biopsied TE and remaining blastocysts. Concordance was observed in 11 of 12 blastocysts classified as euploid by TE biopsy and in 7 of 17 blastocysts classified as aneuploid. There was 100% concordance (7/7) in cases diagnosed as aneuploid with no mosaicism by TE biopsy. However, discordance was observed in all 10 cases showing mosaicism or partial chromosomal abnormality.
Conclusion
Chromosomal status analysis based on TE biopsy does not accurately reflect the chromosomal status of the whole blastocyst. The chromosomal status is usually the same between the TE and remaining blastocyst cells in cases diagnosed as euploid or aneuploid with no mosaicism. However, mosaic blastocysts and those with other types of structural rearrangements have a higher risk of inconsistency, warranting caution during embryo selection.
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