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全国新生儿筛查计划现在是炒作还是希望?

National newborn screening program still a hype or a hope now?

机构信息

Department of Genetics and Metabolism, MAMC, Associated Lok Nayak Hospital, New Delhi, India.

出版信息

Indian Pediatr. 2013 Jul;50(7):639-43. doi: 10.1007/s13312-013-0187-9.

Abstract

The year 2013 marks 50 years of both newborn screening and the Indian Academy of Pediatrics. India has seen a lot of change in terms of motivation, evolution and implementation of newborn screening as pilot projects for few disorders. Facilities for implementing screening using tandem mass spectrometry or what is termed as expanded newborn screening have also become available. We attempt to discuss the evolution of newborn screening and the way to carry it forward in the country. The current strengths, the major obstacles and gritty challenges are enlisted. No moment could be so opportune than this year to discuss the rainbow of hope with all its colors with respect to newborn screening in our country.

摘要

2013 年标志着新生儿筛查和印度儿科学会成立 50 周年。印度在少数疾病的试点项目中,在新生儿筛查的动机、演变和实施方面经历了很多变化。利用串联质谱或所谓的扩展新生儿筛查来实施筛查的设施也已经具备。我们试图讨论新生儿筛查的演变以及在该国推进它的方法。列出了当前的优势、主要障碍和严峻挑战。没有比今年更合适的时机,与全国范围内的新生儿筛查一起讨论彩虹的所有颜色了。

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