Carreiro-Lewandowski Eileen
Department of Medical Laboratory Science, University of Massachusetts Dartmouth, N Dartmouth, MA 02747-2300, USA.
Clin Lab Sci. 2002 Fall;15(4):229-38.
The ethical considerations and the criteria for inclusion of a test to a newborn screening program have remained constant since testing began in the 1960s. Does the test identify a treatable disorder with significant incidence to pose a public health risk and warrant testing all babies in that state or territory? Technological advances in testing, particularly with the improvement of tandem mass spectrometry techniques and the advent of DNA testing for the specific gene mutations, have expanded our understanding of many inherited metabolic diseases. These mostly autosomal recessive disorders went under-diagnosed by the medical community for many years. This was partly due to the notion that the incidence of inherited metabolic diseases was quite rare and that many so-called birth defects, or unexplained infant deaths, were not associated with any known metabolic disorders. Public health departments, as part of their newborn health programs, offer some newborn screening to all infants born within their jurisdiction. Two tests, those for phenylketonuria (PKU) and congenital hypothyroidism are universally mandated (51/51 juristictions). The next highest frequency tests are for galactosemia and sickle cell disease (50/51), with up to thirty tests available in some states. However, the authority as to which tests are included resides with the local state government, either as a matter of law or as a matter for the public health department. As these matters become more complex, many public health officials and pediatric healthcare practitioners urge the Federal government to become involved and develop national guidelines in an effort to streamline the process and decrease the existing inconsistencies between states. For many laboratorians, the collection of newborn screening blood spot samples is the extent of their involvement in newborn screening programs. The many facets of these programs, the status of newborn screening in the United States, and the incidence and description of selected inherited disorders are explored.
自20世纪60年代开始进行检测以来，新生儿筛查项目的伦理考量和纳入检测的标准一直保持不变。该检测能否识别出一种发病率较高且可治疗的疾病，从而构成公共卫生风险，并保证对该州或地区的所有婴儿进行检测？检测技术的进步，特别是串联质谱技术的改进以及针对特定基因突变的DNA检测的出现，拓宽了我们对许多遗传性代谢疾病的认识。这些大多为常染色体隐性疾病多年来一直未得到医学界的充分诊断。部分原因在于人们认为遗传性代谢疾病的发病率相当低，而且许多所谓的出生缺陷或不明原因的婴儿死亡与任何已知的代谢紊乱无关。作为新生儿健康项目的一部分，公共卫生部门为其管辖范围内出生的所有婴儿提供一些新生儿筛查。两项检测，即苯丙酮尿症（PKU）检测和先天性甲状腺功能减退症检测是普遍强制要求的（51个司法管辖区均如此）。接下来检测频率次高的是半乳糖血症和镰状细胞病检测（50/51），有些州提供多达三十项检测。然而，纳入哪些检测的决定权在于当地州政府，这要么是法律规定的，要么是公共卫生部门负责的事项。随着这些问题变得更加复杂，许多公共卫生官员和儿科医疗从业者敦促联邦政府介入并制定全国性指导方针，以简化流程并减少各州之间现有的不一致情况。对于许多实验室工作人员来说，采集新生儿筛查血斑样本就是他们参与新生儿筛查项目的全部工作。本文将探讨这些项目的诸多方面、美国新生儿筛查的现状以及选定的遗传性疾病的发病率和描述。
