Penchaszadeh Victor B
Division of Medical Genetics, Beth Israel Medical Center, Albert Einstein College of Medicine, New York, NY 10003, USA.
Community Genet. 2002;5(1):61-9. doi: 10.1159/000064632.
The birth prevalence of congenital anomalies in developing countries is similar to that observed in developed countries. However, the health impact of birth defects is higher because of a lack of adequate services for the care of affected infants and a higher rate of exposures to infections and malnutrition. A number of successful measures for the prevention of congenital anomalies are being taken in a number of developing nations. Primary prevention programs are based on public education about preconceptional and prenatal risks. Prevention based on reproduction options includes teratogen information services and prenatal screening for fetal anomalies. In addition, programs for the detection of congenital malformations at birth, followed by early treatment, are contributing to secondary prevention. Prevention of congenital anomalies in the developing world requires: (a) good epidemiological data on the prevalence and types of birth defects and genetic disorders; (b) educating health professionals in the goals and methods of preventing birth defects at low cost but with high impact, and (c) expansion of family planning and improvement of antenatal care combined with educational campaigns to avoid the risks for birth defects. The basis for public health preventive measures should be the primary health care level. In a sizable proportion of developing countries, the stage is already set for these measures to be implemented. Required are education, political will, and proper organization and allocation of resources.
发展中国家先天性异常的出生患病率与发达国家观察到的情况相似。然而，由于缺乏对患病婴儿的充分护理服务以及感染和营养不良的暴露率较高，出生缺陷对健康的影响更大。一些发展中国家正在采取许多成功的预防先天性异常的措施。一级预防计划基于对孕前和产前风险的公众教育。基于生殖选择的预防措施包括致畸物信息服务和胎儿异常的产前筛查。此外，在出生时检测先天性畸形并随后进行早期治疗的计划有助于二级预防。发展中世界预防先天性异常需要：(a) 关于出生缺陷和遗传疾病的患病率和类型的良好流行病学数据；(b) 以低成本但高影响力的方式对卫生专业人员进行预防出生缺陷的目标和方法的教育，以及 (c) 扩大计划生育并改善产前护理，同时开展教育运动以避免出生缺陷风险。公共卫生预防措施的基础应该是初级卫生保健层面。在相当一部分发展中国家，已经具备实施这些措施的条件。需要的是教育、政治意愿以及资源的合理组织和分配。
