Newborn Screening Laboratory, Medical Genetics Unit, Faculty of Medicine Saint Joseph University, Beirut, Lebanon.
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S441-6. doi: 10.1007/s10545-008-1008-5. Epub 2008 Nov 21.
Tandem mass spectrometry (MS/MS) is rapidly gaining support, even in less-developed nations, as the method of choice for the newborn screening of metabolic disorders, although difficulties in acquiring this technology may at times be major obstacles in several Middle East and North Africa (MENA) countries. In Lebanon, international cooperation allowed this acquisition at the Newborn Screening Laboratory (NSL) of the Saint Joseph University (USJ) in the capital city of Beirut. NSL is currently screening up to 20% of all newborns in Lebanon. The expansion was made possible through initial collaboration with the Metabolic Laboratory at the Hamburg University Medical Center (HUMC) and subsequently with other centres. During phase I of the expansion (2006-2007), blood spots were shipped to HUMC with rapid couriers twice a week and electronic reports were sent back generally within 4 days after shipment. Positive cases were recalled to NSL and new specimens were sent back for confirmation at HUMC. During that first phase, the Beirut staff received training at the HUMC and in other centres. Phase II was a transitory period of 4 months during which machines were installed in Beirut and working procedures were adopted and documented. The activity has now entered a consolidation phase (Phase III) in which all measurements are exclusively performed in Beirut while HUMC acts as a backup centre. International cooperation remains crucial for periodic quality assurance procedures, and for supporting the transformation of the USJ-NSL into a training centre able to transfer MS/MS technology to the MENA region.
串联质谱法(MS/MS)作为代谢性疾病新生儿筛查的首选方法,正在迅速得到支持,即使在欠发达国家也是如此,尽管在一些中东和北非(MENA)国家,获取这种技术有时可能会遇到重大障碍。在黎巴嫩,国际合作使得首都贝鲁特的圣约瑟夫大学(USJ)新生儿筛查实验室(NSL)得以获得这项技术。NSL 目前正在对黎巴嫩多达 20%的新生儿进行筛查。这项扩展是通过与汉堡大学医学中心(HUMC)的代谢实验室的初步合作以及随后与其他中心的合作实现的。在扩展的第一阶段(2006-2007 年),每周两次通过快速快递将血斑运往 HUMC,并在发货后大约 4 天内发送电子报告。阳性病例被召回 NSL,新标本被送往 HUMC 进行确认。在第一阶段,贝鲁特的工作人员在 HUMC 和其他中心接受了培训。第二阶段是 4 个月的过渡阶段,在此期间,机器在贝鲁特安装,工作程序得到采用和记录。该活动现已进入巩固阶段(第三阶段),所有测量都仅在贝鲁特进行,而 HUMC 充当备份中心。国际合作仍然是定期质量保证程序和支持 USJ-NSL 转变为能够向 MENA 地区转移 MS/MS 技术的培训中心的关键。