Transcriptome analysis of human preimplantation embryo reveals expressed waves associated with blastulation failure based on embryonic grade and age

Abstract In the in vitro fertilization and embryo transfer (IVF-ET) treatments, blastocyst culture is the method of choice for the generation of the embryos. Blastocysts can present different growth, quality, availability, and morphological characteristics that can be used to evaluate them. Although extreme blastocyst formation failures have been associated with the alteration of a single gene, the molecular factors responsible for arrested embryos remain unknown. RNA-sequencing (RNA-seq) is a promising tool for facilitating transcriptomic studies in early human embryos, thus allowing the investigation of gene expression discrepancies associated with different morphological criteria. Herein, we performed transcriptome analyses of the different stages of arrested human embryos. We identified candidate genes and related cell signaling pathways potentially associated with either arrested or developed embryos. Specifically, the three genes ( MOV10L1, DDX4 , and FKBP6 ) related to both DNA methylation and piRNA metabolic pathway might be involved in embryo development. Additionally, the transcriptome of arrested early blastocysts was significantly different from developed late blastocysts. Although the gene expression profiles identified were not significantly different between low- and high-quality late blastocysts, a significant difference in the profiles of day 5 and day 6 available late blastocysts was observed, which may be related to the clinical pregnancy rate associated with IVF-ET. Furthermore, we show that some chimeric RNAs may be functional in blastocyst development. Our findings uncovered new molecular markers that can be used for embryonic development detection, which might act as a tool for blastocyst selection for subsequent transfer.