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利用新生儿筛查干血斑提高新生儿筛查质量。

Newborn screening residual dried blood spot use for newborn screening quality improvement.

机构信息

American College of Medical Genetics, Bethesda, Maryland 20814, USA.

出版信息

Genet Med. 2010 Dec;12(12 Suppl):S269-72. doi: 10.1097/GIM.0b013e3181fea489.

DOI:10.1097/GIM.0b013e3181fea489
PMID:21150375
Abstract

The outcomes of a meeting that focused on the role of the residual dried blood spots from newborn screening for uses in the improvement of newborn screening are reported. Discussions of policy development, such as this one, begin by identifying the problem to be solved; in this case, it is achieving common ground to develop consistent policies for the use of residual dried blood spots, such that their benefits to the public's health and the health of children are amplified, and harms are minimized. Similarly, the issue must be considered contextually. The example of newborn screening for phenylketonuria was used to highlight the issues in the context of the condition with the longest history in newborn screening. Principles and recommendations for the use of the residual dried blood spot were developed.

摘要

会议重点讨论了新生儿筛查中遗留的干血斑在改善新生儿筛查方面的作用,现将会议结果报告如下。此类政策制定的讨论首先要确定需要解决的问题;在这种情况下,就是要达成共识,制定一致的政策来使用遗留的干血斑,以扩大其对公众健康和儿童健康的益处,同时将危害降到最低。同样,这个问题必须从上下文中考虑。以新生儿筛查苯丙酮尿症为例,突出了在新生儿筛查历史最长的情况下的相关问题。还制定了使用遗留的干血斑的原则和建议。

相似文献

1
Newborn screening residual dried blood spot use for newborn screening quality improvement.利用新生儿筛查干血斑提高新生儿筛查质量。
Genet Med. 2010 Dec;12(12 Suppl):S269-72. doi: 10.1097/GIM.0b013e3181fea489.
2
Long-term follow-up of newborn screening patients.新生儿筛查患者的长期随访。
Genet Med. 2010 Dec;12(12 Suppl):S267-8. doi: 10.1097/GIM.0b013e3181fea476.
3
Committee report: Considerations and recommendations for national guidance regarding the retention and use of residual dried blood spot specimens after newborn screening.委员会报告:关于新生儿筛查后保留和使用干血斑剩余标本的国家指导意见的考虑和建议。
Genet Med. 2011 Jul;13(7):621-4. doi: 10.1097/GIM.0b013e3182147639.
4
Storage and use of residual dried blood spots.残余干血斑的储存与使用。
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:49-51.
5
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.遗传代谢病生化遗传检测和新生儿筛查的良好实验室规范。
MMWR Recomm Rep. 2012 Apr 6;61(RR-2):1-44.
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Newborn screening in Japan.日本的新生儿筛查。
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:80.
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Newborn dried bloodspot screening: long-term follow-up activities and information system requirements.新生儿干血斑筛查:长期随访活动和信息系统要求。
Genet Med. 2010 Dec;12(12 Suppl):S261-6. doi: 10.1097/GIM.0b013e3181fe5f6c.
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Newborn screening: an overview.新生儿筛查:概述
Clin Lab Sci. 2002 Fall;15(4):229-38.
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Retention and research use of residual newborn screening bloodspots.保留和研究利用新生儿筛查剩余血斑。
Pediatrics. 2013 Jan;131(1):120-7. doi: 10.1542/peds.2012-0852. Epub 2012 Dec 3.
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Newborn screening in North America.北美地区的新生儿筛查。
J Inherit Metab Dis. 2007 Aug;30(4):447-65. doi: 10.1007/s10545-007-0690-z. Epub 2007 Jul 23.

引用本文的文献

1
Public attitudes toward the research use and storage of residual dried blood spots from newborn screening in China.中国公众对新生儿筛查中剩余干血斑的研究用途及储存的态度。
BMC Med Ethics. 2025 Jul 3;26(1):76. doi: 10.1186/s12910-025-01240-2.
2
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.香港公众及医疗服务提供者对保留干血斑卡片及其用于扩展基因检测的接受度
Int J Neonatal Screen. 2023 Aug 11;9(3):45. doi: 10.3390/ijns9030045.
3
Policy Making in Newborn Screening Needs a Structured and Transparent Approach.
新生儿筛查中的政策制定需要一种结构化且透明的方法。
Front Public Health. 2017 Mar 21;5:53. doi: 10.3389/fpubh.2017.00053. eCollection 2017.
4
Public concerns regarding the storage and secondary uses of residual newborn bloodspots: an analysis of print media, legal cases, and public engagement activities.公众对新生儿残余血斑储存及二次利用的关注:对平面媒体、法律案件及公众参与活动的分析
J Community Genet. 2015 Apr;6(2):117-28. doi: 10.1007/s12687-014-0206-0. Epub 2014 Dec 23.
5
Storage and use of Newborn Screening Blood Specimens for Research: Assessing Public Opinion in Illinois.用于研究的新生儿筛查血样的储存与使用:评估伊利诺伊州的公众意见。
J Genet Couns. 2015 Jun;24(3):482-90. doi: 10.1007/s10897-014-9788-2. Epub 2014 Nov 20.
6
Validation and development of an immunonephelometric assay for the determination of alpha-1 antitrypsin levels in dried blood spots from patients with COPD.用于测定慢性阻塞性肺疾病(COPD)患者干血斑中α-1抗胰蛋白酶水平的免疫比浊法的验证与开发。
J Bras Pneumol. 2013 Sep-Oct;39(5):547-54. doi: 10.1590/S1806-37132013000500004.
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Lessons that newborn screening in the USA can teach us about biobanking and large-scale genetic studies.美国新生儿筛查能让我们学到的关于生物样本库和大规模基因研究的经验教训。
Per Med. 2013 Jan 1;10(1):81-87. doi: 10.2217/pme.12.115.