Garg Uttam, Dasouki Majed
Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals and Clinics, 2401 Gillham Road, Kansas City, MO 64108, USA.
Clin Biochem. 2006 Apr;39(4):315-32. doi: 10.1016/j.clinbiochem.2005.12.009. Epub 2006 Mar 23.
Newborn screening started in the 1960s for the purpose of identifying phenylketonuric patients to begin early intervention and to prevent mental retardation in these patients. Soon thereafter, screening programs expanded to include additional genetic disorders added individually one at a time. In the 1980s, tandem mass spectrometry (MS/MS) was introduced in clinical laboratories, and in the 1990s, the technique was used for newborn screening. Unlike measuring one analyte at a time, MS/MS allows measurement of >40 analytes, in a few minutes with the use of a single assay. Currently, MS/MS is being used for the identification of several amino acid, organic acid and fatty acid disorders. Several states in the United States and many other countries are using MS/MS in newborn screening. However, there is a significant disparity among different newborn screening programs for disorders being screened by MS/MS and many other challenges are faced by the expanded newborn screening. It is anticipated that in the future the use of MS/MS in newborn screening will expand both at the analyte and geographic levels. Clinicians and laboratory scientists should become familiar with MS/MS, disorders being screened in their patients' population and the future of this emerging technology.
新生儿筛查始于20世纪60年代，目的是识别苯丙酮尿症患者，以便尽早进行干预并预防这些患者出现智力发育迟缓。此后不久，筛查项目不断扩展，一次增加一种其他遗传性疾病。20世纪80年代，串联质谱（MS/MS）被引入临床实验室，到了90年代，该技术被用于新生儿筛查。与一次测量一种分析物不同，MS/MS能够在几分钟内通过一次检测测量40多种分析物。目前，MS/MS正用于多种氨基酸、有机酸和脂肪酸疾病的识别。美国的几个州以及许多其他国家都在新生儿筛查中使用MS/MS。然而，在通过MS/MS进行筛查的疾病方面，不同的新生儿筛查项目存在显著差异，并且扩大后的新生儿筛查还面临许多其他挑战。预计未来MS/MS在新生儿筛查中的应用将在分析物和地理层面上都得到扩展。临床医生和实验室科学家应该熟悉MS/MS、其所在患者群体中正在筛查的疾病以及这项新兴技术的未来发展。
