Department of Genetic Medicine, Children's Youth and Women's Health Service, North Adelaide, Australia.
Ann Acad Med Singap. 2008 Dec;37(12 Suppl):27-2.
The introduction of tandem mass spectrometry technology expands newborn screening and permits early diagnosis of inborn errors of metabolism. Through measurement of a number of acyl carnitines, amino acids and associated ratios, infants at risk of inborn errors of metabolism can be detected. However the increasing availability of the technology places new challenges to areas with established programmes, as well as those without existing newborn screening programmes. Once the technical aspects of tandem mass spectrometry operation are overcome, the initial challenge lies in determination of whether a borderline result is abnormal. Participation in quality assurance and international collaborative programmes is critical to optimise sensitivity and specificity. Some conditions are readily detected, others are more problematic. All positive results must be confirmed with formal testing but the tests required will vary with the disorder. Even after confirmed diagnosis, the significance of the diagnosis for that child may not be clear, as mild forms of disorders, previously thought to be rare, are being recognised by newborn screening programmes. Parents should be provided with easy to understand written information and a management plan. Education of health professionals who may not be familiar with these conditions raises another challenge. Treatment should be supervised by an expert centre and outcome data must be collected to determine the effectiveness of the screening programme in each area.
串联质谱技术的引入扩大了新生儿筛查的范围，并允许对先天性代谢缺陷进行早期诊断。通过测量多种酰基肉碱、氨基酸及其相关比值，可以检测到有先天性代谢缺陷风险的婴儿。然而，随着该技术的日益普及，为已有既定方案的地区以及尚无新生儿筛查方案的地区带来了新的挑战。一旦克服了串联质谱操作的技术方面的困难，最初的挑战在于确定边界结果是否异常。参与质量保证和国际合作计划对于优化灵敏度和特异性至关重要。一些病症很容易被发现，而其他病症则更具挑战性。所有阳性结果都必须通过正式测试来确认，但所需的测试将因疾病而异。即使在确诊后，对于那个孩子来说，诊断的意义也可能不明确，因为新生儿筛查计划已经发现了以前被认为罕见的轻度疾病。应该向父母提供易于理解的书面信息和管理计划。对可能不熟悉这些病症的卫生专业人员进行教育也带来了另一个挑战。治疗应该由专家中心监督，并且必须收集结果数据，以确定每个地区的筛查计划的有效性。
