活检的人类囊胚滋养外胚层细胞与整个囊胚细胞的染色体状态分析之间的一致性。
Consistency between chromosomal status analysis of biopsied human blastocyst trophectoderm cells and whole blastocyst cells.
作者信息
Takahashi Harunori, Takahashi Kazumasa, Goto Mayumi, Hirakawa Takeo, Hasegawa Hisataka, Shitara Akihiro, Iwasawa Takuya, Togashi Kazue, Makino Kenichi, Shirasawa Hiromitsu, Miura Hiroshi, Sato Wataru, Kumazawa Yukiyo, Terada Yukihiro
机构信息
Department of Obstetrics and Gynecology Akita University Graduate School of Medicine Akita Japan.
出版信息
Reprod Med Biol. 2021 Jun 23;20(4):444-450. doi: 10.1002/rmb2.12400. eCollection 2021 Oct.
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.
目的
本研究调查了对滋养外胚层（TE）细胞进行的非整倍体植入前基因检测结果与剩余囊胚细胞结果之间的一致性。
方法
对29个多余的冷冻保存的人囊胚进行TE活检。活检样本和剩余囊胚使用VeriSeq PGS试剂盒进行处理，并通过下一代测序比较染色体状态。
结果
在29个囊胚中，有11个囊胚的活检TE与剩余囊胚的染色体状态存在不一致。在TE活检分类为整倍体的12个囊胚中有11个观察到一致性，在分类为非整倍体的17个囊胚中有7个观察到一致性。在TE活检诊断为无嵌合的非整倍体病例中，一致性为100%（7/7）。然而，在所有10例显示嵌合或部分染色体异常的病例中均观察到不一致。
结论
基于TE活检的染色体状态分析不能准确反映整个囊胚的染色体状态。在诊断为整倍体或无嵌合的非整倍体病例中，TE和剩余囊胚细胞之间的染色体状态通常相同。然而，嵌合囊胚和那些有其他类型结构重排的囊胚存在更高的不一致风险，在胚胎选择时需谨慎。
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