MMWR Morb Mortal Wkly Rep. 1999 Dec 10;48(48):1101-4.
All 50 states and the District of Columbia conduct newborn screening (NBS) programs that annually screen approximately 4 million infants for metabolic and other disorders to prevent mental retardation, disability, and death. In 1998, Georgia newborns were screened for eight disorders: phenylketonuria, galactosemia, tyrosinemia, homocystinuria, hypothyroidism, maple syrup urine disease, congenital adrenal hyperplasia, and sickle cell disease. Appropriate data that reflect progress toward achieving short- and long-term goals are necessary to assess the effectiveness of NBS and to inform public health policy decisions about which disorders to add or delete from screening. This report summarizes findings from an evaluation of data systems for metabolic and endocrine disorders in the Georgia NBS program and assesses the ability to measure progress toward short- and long-term goals. Although the data indicate that the program typically received specimens of sufficient quality for testing in a timely manner, additional data are needed to assess fully the effectiveness of the NBS program in identifying disorders.
美国50个州及哥伦比亚特区均实施新生儿筛查（NBS）项目，每年对约400万婴儿进行代谢及其他疾病筛查，以预防智力迟钝、残疾和死亡。1998年，佐治亚州的新生儿接受了8种疾病的筛查：苯丙酮尿症、半乳糖血症、酪氨酸血症、高胱氨酸尿症、甲状腺功能减退、枫糖尿症、先天性肾上腺增生症和镰状细胞病。反映实现短期和长期目标进展情况的适当数据对于评估新生儿筛查的有效性以及为关于在筛查中增加或删除哪些疾病的公共卫生政策决策提供信息至关重要。本报告总结了对佐治亚州新生儿筛查项目中代谢和内分泌疾病数据系统评估的结果，并评估了衡量短期和长期目标进展情况的能力。尽管数据表明该项目通常能及时收到质量足以进行检测的标本，但仍需要更多数据来全面评估新生儿筛查项目在识别疾病方面的有效性。
