免费婚检、疾病筛查诊断……防治出生缺陷多地出实招

Core Viewpoint - The prevention of birth defects in China has seen significant progress, but challenges remain due to complex clinical manifestations and unclear pathogenic mechanisms [2][3]. Group 1: Current Situation and Challenges - Birth defects are a major cause of infant mortality and congenital disabilities in China, with over 8,000 known types of birth defects [2]. - The country has established a three-tier prevention system for birth defects, transitioning from "passive treatment" to "active prevention," yet issues such as resource imbalance and service quality persist [2][3]. - The increasing proportion of advanced maternal age and the younger demographic of chronic disease patients contribute to the rising risk of adverse pregnancy outcomes [2]. Group 2: Legislative and Policy Developments - Inner Mongolia has implemented the first local regulation specifically addressing birth defect prevention, covering medical service standards, public health education, and family support for affected children [3]. - The regulation includes provisions for free premarital medical examinations and prenatal health checks, with 56% of counties integrating service resources to optimize processes [3]. Group 3: Innovative Practices and Services - Hunan Province has introduced a health information system that offers free screenings for high-cost prenatal genetic tests and newborn metabolic disease screenings, benefiting over 500,000 pregnant women and newborns [4]. - A one-stop service model has been established in Changsha, facilitating the entire process from application to follow-up for free screenings and consultations [4]. - Shandong Province has developed multidisciplinary diagnostic platforms to enhance early detection and intervention for birth defects, exemplified by a case where a fetal heart condition was successfully managed through coordinated care [5].