助力女性不孕症精准诊断：我国学者发布卵子与早期胚胎发育潜能缺陷系统分型与遗传图谱

Core Insights - The article discusses the significant public health challenge of infertility, affecting 12.6%-17.5% of couples globally, and highlights the role of in vitro fertilization (IVF) as a primary assisted reproductive technology [3] - A recent study published in Nature Medicine introduces the concept of Oocyte and Early Embryo Competence Defects (OECD) and identifies six subtypes based on clinical characteristics, providing new diagnostic standards and genetic mapping for female infertility [4][7] Group 1: OECD Concept and Subtypes - The study systematically proposes the concept of OECD and categorizes it into six subtypes: Empty Follicle, Oocyte Maturation Arrest, Fertilization Failure, Zygote Arrest, Early Embryonic Arrest, and Mixed Phenotype, along with corresponding diagnostic criteria [4][7] - The research involved whole-exome sequencing of 2,140 female OECD infertility patients to explore the genetic landscape and subtype classification [7] Group 2: Genetic Findings and Implications - The research team identified 183 pathogenic or potentially pathogenic mutations across 28 known genes, with varying diagnostic rates among subtypes; for instance, the Empty Follicle subtype had a diagnostic rate of 53% [9] - The study also identified and validated two potential pathogenic genes, MLH3 and CENPH, and suggested nine previously unreported associated genes, providing biological insights into the potential pathogenic mechanisms of ovarian insufficiency [9] - Overall, the genetic findings explain 12.8%-23.1% of OECD cases, offering valuable information for developing diagnostic genetic screening and standardizing subtype classification for OECD patients [9]