大部分(78%) 均等大小之3細胞胚胎之染色體是異常狀態 ( 第1, 16, and 18 followed by 13, 19, and 21對染色體異常)

J Assist Reprod Genet. 2019 Feb;36(2):307-314. doi: 10.1007/s10815-018-1362-7. Epub 2018 Nov 16.

Chromosome constitution of equal-sized three-cell embryos using next-generation sequencing technology.

Ma M1, Zhang S1, Lu C1, Wang S1, Yao Y1, Peng H2.

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Abstract

PURPOSE:

To study the chromosome constitution of equal-sized three-cell embryo.

METHODS:

We determined the chromosome constitution of 105 blastomeres from 35 embryos using multiple annealing and looping-based amplification cycles (MALBAC) together with NGS sequencing technology. Chromosomal copy number variation (CNV) analysis was successfully performed in 27 embryos. We also analyzed radius, perimeter, area, and volume of each blastomere to explore the possibility of selecting the normal embryos.

RESULTS:

Majority of the embryos (77.8%, 21/27) studied were mosaic or aneuploid, and only 22.2% (6/27) had normal chromosome numbers. The aneuploid chromosomes spread across all chromosomes and the most frequent aneuploidies were for chromosomes 1, 16, and 18 followed by 13, 19, and 21. Statistical analyses showed no significant difference between euploid and aneuploid embryos regarding radius, perimeter, area, and volume of their blastomeres.

CONCLUSIONS:

Our results showed that majority of the equal-sized three-cell embryos were chromosomally abnormal and could not be distinguished by morphology observation, so they should be given lower priority at selection for transfer.