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Neonatal screening for sickle cell disorders: what about the carrier infants?

作者信息

Laird L, Dezateux C, Anionwu E N

机构信息

Department of Epidemiology and Biostatistics, Institute of Child Health, London.

出版信息

BMJ. 1996 Aug 17;313(7054):407-11. doi: 10.1136/bmj.313.7054.407.

DOI:10.1136/bmj.313.7054.407
PMID:8761233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2351830/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/6eb8c62abbb7/bmj00555-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/86815c630749/bmj00555-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/5759e46ea1d0/bmj00555-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/e295738362f8/bmj00555-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/6eb8c62abbb7/bmj00555-0043-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/86815c630749/bmj00555-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/5759e46ea1d0/bmj00555-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/e295738362f8/bmj00555-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b655/2351830/6eb8c62abbb7/bmj00555-0043-a.jpg

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引用本文的文献

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Sickle Cell Trait from a Metabolic, Renal, and Vascular Perspective: Linking History, Knowledge, and Health.从代谢、肾脏和血管角度看镰状细胞特征:关联历史、知识和健康。
J Racial Ethn Health Disparities. 2015 Sep;2(3):330-5. doi: 10.1007/s40615-014-0077-4.
2
Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.父母在新生儿筛查后收到其子女镰状细胞或囊性纤维化携带者检测结果的反应。
Eur J Hum Genet. 2015 Apr;23(4):459-65. doi: 10.1038/ejhg.2014.126. Epub 2014 Jul 9.
3
Informing children of their newborn screening carrier result for sickle cell or cystic fibrosis: qualitative study of parents' intentions, views and support needs.

本文引用的文献

1
Genes and ethics.基因与伦理。
BMJ. 1995 Aug 26;311(7004):574. doi: 10.1136/bmj.311.7004.574a.
2
Neonatal screening for sickle cell disease in a metropolitan university hospital: efficacy and problems.
J Med Screen. 1994 Oct;1(4):229-32. doi: 10.1177/096914139400100409.
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Sickle cell and thalassaemia: some priorities for nursing research.镰状细胞病和地中海贫血:护理研究的一些优先事项。
J Adv Nurs. 1996 May;23(5):853-6. doi: 10.1111/j.1365-2648.1996.tb00061.x.
向儿童告知其镰状细胞病或囊性纤维化新生儿筛查携带者结果:关于父母意图、观点及支持需求的定性研究
J Genet Couns. 2014 Jun;23(3):409-20. doi: 10.1007/s10897-013-9675-2. Epub 2013 Dec 4.
4
Effort required to contact primary care providers after newborn screening identifies sickle cell trait.新生儿筛查发现镰状细胞特征后,与初级保健提供者联系所需的努力。
J Natl Med Assoc. 2012 Nov-Dec;104(11-12):528-34. doi: 10.1016/s0027-9684(15)30219-4.
5
Factors that influence parents' experiences with results disclosure after newborn screening identifies genetic carrier status for cystic fibrosis or sickle cell hemoglobinopathy.影响父母接受新生儿筛查后结果披露的因素,确定囊性纤维化或镰状细胞血红蛋白病的遗传携带者状态。
Patient Educ Couns. 2013 Mar;90(3):378-85. doi: 10.1016/j.pec.2011.12.007. Epub 2012 Jan 11.
6
Genetic screening.基因筛查。
Epidemiol Rev. 2011;33(1):148-64. doi: 10.1093/epirev/mxr008. Epub 2011 Jun 27.
7
Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.重新思考新生儿筛查的生殖获益:对孕前、产前和新生儿筛查指南的系统评价。
Eur J Hum Genet. 2010 Jul;18(7):751-60. doi: 10.1038/ejhg.2010.13. Epub 2010 Mar 3.
8
Questioning the consensus: managing carrier status results generated by newborn screening.质疑共识:处理新生儿筛查产生的携带者状态结果
Am J Public Health. 2009 Feb;99(2):210-5. doi: 10.2105/AJPH.2008.136614. Epub 2008 Dec 4.
9
A systematic review of the effects of disclosing carrier results generated through newborn screening.对新生儿筛查所产生的携带者结果披露的影响进行的系统评价。
J Genet Couns. 2008 Dec;17(6):538-49. doi: 10.1007/s10897-008-9180-1. Epub 2008 Oct 28.
10
Parents' experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era.父母对血红蛋白疾病普遍筛查的体验:对新基因时代实践的启示
Br J Gen Pract. 2008 Mar;58(548):161-8. doi: 10.3399/bjgp08X277276.
4
Mothers' consent to screening newborn babies for disease.母亲同意对新生儿进行疾病筛查。
BMJ. 1993 Mar 27;306(6881):858-9. doi: 10.1136/bmj.306.6881.858-c.
5
Comparison of liquid and dried blood for neonatal hemoglobinopathy screening: laboratory and programmatic issues.用于新生儿血红蛋白病筛查的全血与干血的比较:实验室及项目相关问题
Pediatrics. 1994 Mar;93(3):427-32.
6
The genetic testing of children. Working Party of the Clinical Genetics Society (UK).儿童基因检测。(英国)临床遗传学协会工作小组
J Med Genet. 1994 Oct;31(10):785-97. doi: 10.1136/jmg.31.10.785.
7
Universal screening for hemoglobinopathies using high-performance liquid chromatography: clinical results of 2.2 million screens.使用高效液相色谱法对血红蛋白病进行普遍筛查:220万次筛查的临床结果
Eur J Hum Genet. 1994;2(4):262-71. doi: 10.1159/000472370.
8
GIG response to the UK Clinical Genetics Society report "The genetic testing of children".基因检测行业组织(GIG)对英国临床遗传学协会报告《儿童基因检测》的回应。
J Med Genet. 1995 Jun;32(6):490-1. doi: 10.1136/jmg.32.6.490.
9
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. A positive screening test for an untreatable condition provides psychological relief from uncertainty.新生儿家族性肥厚型心肌病的基因检测。针对一种无法治疗的疾病进行的阳性筛查试验能缓解因不确定性带来的心理负担。
BMJ. 1995 Jul 1;311(6996):58-9. doi: 10.1136/bmj.311.6996.58c.
10
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.杂合性的个体观察:对在蒙特利尔高中筛查中检测出的泰-萨克斯基因携带者的八年随访研究
Am J Med Genet. 1984 Aug;18(4):769-78. doi: 10.1002/ajmg.1320180424.