Embryo developmental arrest: Review of genetic factors and pathways

Abstract Embryo developmental arrest (EDA) is a cause of infertility. As the assessment of the EDA-associated phenotypes in situations rather than in vitro fertilization (IVF) is difficult, EDA is described as cause of IVF failure. Chromosomal abnormalities, abnormal preimplantation development and single gene disorders have been stated as causes of EDA. This process is also associated with abnormal regulation of some signaling pathways such as Wnt and TGF-β pathways. With the advent of high throughput sequencing techniques, the role of some single gene mutations in the pathogenesis of inherited forms of EDA has been discovered. Mutations in subcortical maternal complex genes such as PADI6, TLE6 and KHDC3L have been detected in familial cases of EDA. Moreover, a bulk of evidences suggests participation of WEE gene in this pathological process. The provided information in the current review facilitates understanding the genes and pathways participating in the developmental arrest and implantation failure. Further genomic and transcriptomic assays are needed to enrich this information.