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1
Newborn screening: evolving challenges in an era of rapid discovery.新生儿筛查：快速发现时代不断演变的挑战。
JAMA. 2015 Apr 21;313(15):1511-2. doi: 10.1001/jama.2014.17488.
2
Newborn health screenings.新生儿健康筛查。
NCSL Legisbrief. 2012 Dec;20(47):1-2.
3
Advisory committee on heritable disorders and genetic diseases in newborns and children.新生儿及儿童遗传性疾病咨询委员会
Ment Retard Dev Disabil Res Rev. 2006;12(4):313-5. doi: 10.1002/mrdd.20126.
4
Screening newborns: just the beginning. Newborn screening and tracking diagnosed children into adulthood varies among states.筛查新生儿：这仅仅是个开始。各州在新生儿筛查以及将确诊儿童追踪至成年阶段的情况各不相同。
State Legis. 2008 Apr;34(4):20-3.
5
From developing guidelines to implementing legislation: actions of the US Advisory Committee on Heritable Disorders in Newborns and Children toward advancing and improving newborn screening.从制定指南到实施立法：美国新生儿和儿童遗传性疾病咨询委员会在推进和改善新生儿筛查方面的行动。
Semin Perinatol. 2010 Apr;34(2):121-4. doi: 10.1053/j.semperi.2009.12.004.
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An ounce of prevention: early detection of certain diseases in infants can save lives and prevent suffering.预防为主：早期发现婴儿的某些疾病可挽救生命并预防痛苦。
State Legis. 2005 Oct-Nov;31(9):31-3.
7
Secretary's Advisory Committee on Heritable Disorders in Newborns and Children response to the President's Council on Bioethics report: the changing moral focus of newborn screening.新生儿及儿童遗传性疾病问题秘书咨询委员会对总统生物伦理委员会报告的回应：新生儿筛查中不断变化的道德焦点
Genet Med. 2011 Apr;13(4):301-4. doi: 10.1097/GIM.0b013e318210655d.
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Genetic screening and public health.基因筛查与公共卫生。
Am J Public Health. 1997 Aug;87(8):1275-7. doi: 10.2105/ajph.87.8.1275.
9
Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.公众参与医疗政策制定与消费者自主权状况：以美国新生儿筛查项目为例
Am J Public Health. 1997 Aug;87(8):1280-8. doi: 10.2105/ajph.87.8.1280.
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Panel to advise tests on babies for 29 diseases.小组就29种疾病的婴儿检测提供建议。
N Y Times Web. 2005 Feb 21:A1, A14.

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Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.对7501名新生儿进行靶向基因测序和听力随访，揭示了一种改进的新生儿听力筛查策略。
Eur J Hum Genet. 2025 Apr;33(4):468-475. doi: 10.1038/s41431-024-01711-x. Epub 2024 Oct 23.
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Parental Preferences for Expanded Newborn Screening: What Are the Limits?父母对扩大新生儿筛查的偏好：界限何在？
Children (Basel). 2023 Aug 9;10(8):1362. doi: 10.3390/children10081362.
3
Pilot protocol for the Parent and Infant Inter(X)action Intervention (PIXI) feasibility study.父母与婴儿互动干预（PIXI）可行性研究的初步方案。
PLoS One. 2023 May 4;18(5):e0270169. doi: 10.1371/journal.pone.0270169. eCollection 2023.
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A Window of Opportunity for Newborn Screening.新生儿筛查的机会之窗。
Mol Diagn Ther. 2022 May;26(3):253-261. doi: 10.1007/s40291-022-00590-6. Epub 2022 May 4.
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Expert Evaluation of Strategies to Modernize Newborn Screening in the United States.美国新生儿筛查现代化策略的专家评估。
JAMA Netw Open. 2021 Dec 1;4(12):e2140998. doi: 10.1001/jamanetworkopen.2021.40998.
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Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.溶酶体疾病的实验室诊断：从新生儿筛查到治疗
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7
Early Check: translational science at the intersection of public health and newborn screening.早期检查：公共卫生与新生儿筛查交叉领域的转化科学
BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.
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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.健康和患病新生儿基因组测序结果解读：BabySeq 项目的结果。
Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.
9
Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.在北卡罗来纳州新生儿外显子测序通用筛查（NC NEXUS）研究中评估父母为其子女进行下一代测序的决策：一项随机对照试验方案。
Trials. 2018 Jun 28;19(1):344. doi: 10.1186/s13063-018-2686-4.
10
Newborn Screening Collection and Delivery Processes in Michigan Birthing Hospitals: Strategies to Improve Timeliness.密歇根州分娩医院的新生儿筛查采集与送检流程：提高及时性的策略
Matern Child Health J. 2018 Oct;22(10):1436-1443. doi: 10.1007/s10995-018-2524-z.

本文引用的文献

1
Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.被提名列入推荐统一筛查小组的条件的决策过程：美国卫生与公众服务部部长遗传性新生儿和儿童疾病咨询委员会的声明。
Genet Med. 2014 Feb;16(2):183-7. doi: 10.1038/gim.2013.98. Epub 2013 Aug 1.
2
The ethical hazards and programmatic challenges of genomic newborn screening.基因组新生儿筛查的伦理风险与规划挑战。
JAMA. 2012 Feb 1;307(5):461-2. doi: 10.1001/jama.2012.68.
3
Mandatory versus voluntary consent for newborn screening?新生儿筛查强制同意与自愿同意？
Kennedy Inst Ethics J. 2010 Dec;20(4):299-328.
4
Newborn screening for Krabbe disease: the New York State model.克拉贝病的新生儿筛查：纽约州模式。
Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.
5
Newborn screening: toward a uniform screening panel and system.新生儿筛查：迈向统一的筛查项目和系统。
Genet Med. 2006 May;8 Suppl 1(Suppl 1):1S-252S. doi: 10.1097/01.gim.0000223891.82390.ad.
6
From public health emergency to public health service: the implications of evolving criteria for newborn screening panels.从公共卫生突发事件到公共卫生服务：新生儿筛查项目标准演变的影响
Pediatrics. 2006 Mar;117(3):923-9. doi: 10.1542/peds.2005-0553.

Newborn screening: evolving challenges in an era of rapid discovery.

作者信息

Bailey Donald B, Gehtland Lisa

机构信息

RTI International, Research Triangle Park, North Carolina.

出版信息

JAMA. 2015 Apr 21;313(15):1511-2. doi: 10.1001/jama.2014.17488.

DOI:10.1001/jama.2014.17488
PMID:25898043
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7990125/
Abstract
摘要