Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University.
Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
J Pak Med Assoc. 2022 Mar;72(3):526-531. doi: 10.47391/JPMA.01181.
Newborn screening aims at detecting treatable disorders early so that the treatment can be initiated to prevent mortality and morbidity. Such programmes are well established in most developed countries, and all newborns are screened for selected metabolic, endocrine and other disorders based on disease epidemiology, testing and treatment availability, efficiency and cost-effectiveness. Even in developing countries, such screening programmes are initiated using heel prick capillary blood collected on filter paper. The current narrative review was planned to provide a perspective with evidence in favour of starting newborn screening for different disorders. The programme project should be initiated nationwide, taking one disorder, congenital hypothyroidism, as the prototype and a newborn screening panel can then be extended to include other disorders. A task force should be set up to recommend disorders to be included in the panel, develop the national plan policies, and define procedures to strengthen the testing.
新生儿筛查旨在早期发现可治疗的疾病,以便在疾病发生时及时进行治疗,从而预防死亡率和发病率。在大多数发达国家,这类筛查项目已经成熟,所有新生儿都会根据疾病的流行病学、检测手段、治疗方法的可及性、效率和成本效益等因素,接受特定的代谢、内分泌和其他疾病的筛查。即使在发展中国家,也会使用滤纸采集足跟血进行此类筛查。本综述旨在提供有证据支持的观点,以支持为不同疾病开展新生儿筛查。应在全国范围内启动该项目,以先天性甲状腺功能减退症为试点,并扩展新生儿筛查项目,纳入其他疾病。应成立一个专门小组,建议纳入该项目的疾病种类,制定国家计划政策,并确定加强检测的程序。