Bartoshesky Louis E
Delaware Newborn Screening Program, Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
Del Med J. 2003 May;75(5):181-9.
Newborn screening for metabolic, hematologic, and endocrinologic disorders is a well-established public health function. Recent technological advances have made screening possible for more disorders. For many of these disorders, there is evidence that screening is effective; however, some of these disorders are rare, and their response to therapy and their natural history are not completely understood. A number of states have instituted "expanded" newborn screening utilizing a combination of established and new technologies. Other states, including Delaware, have studied the experiences of the states doing expanded screening and have decided to proceed with expanded screening as well. Since early 2003, Delaware has been screening newborns for about 25 disorders, including amino acidopathies, organic acidurias, fatty acid oxidation disorders, hemoglobinopathies, and endocrinopathies.
对代谢、血液和内分泌疾病进行新生儿筛查是一项成熟的公共卫生职能。最近的技术进步使得对更多疾病进行筛查成为可能。对于其中许多疾病,有证据表明筛查是有效的;然而,这些疾病中有一些很罕见,它们对治疗的反应以及自然病程尚未完全明了。一些州已采用成熟技术与新技术相结合的方式开展“扩大的”新生儿筛查。包括特拉华州在内的其他一些州,研究了开展扩大筛查的州的经验,并决定也进行扩大筛查。自2003年初以来,特拉华州一直在对新生儿进行约25种疾病的筛查,包括氨基酸病、有机酸尿症、脂肪酸氧化障碍、血红蛋白病和内分泌病。