Genetic Research Progress on Abnormal Development of Human Oocytes and Early Embryos

The normal development of oocytes and early embryos is crucial for obtaining healthy offspring, and genetic factors play significant roles in the processes of oocyte maturation and early embryo development. Mutations in key genes that regulate the development of oocytes and early embryos can lead to disturbances in oocyte maturation, fertilization failure, or early embryo developmental arrest, ultimately resulting in infertility or early miscarriage. With the widespread application of whole-genome sequencing and whole-exome sequencing technologies, an increasing number of pathogenic gene mutations have been discovered, providing reliable diagnostic and therapeutic targets for patients with infertility. This article systematically reviews the pathogenic genes that lead to the abnormalities of human oocyte maturation, fertilization, and early embryonic development, aiming to promote its application in assisted reproduction