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镰状细胞病新生儿筛查——对一个双岛国家试点项目的审计

Sickle Cell Disease Newborn Screening-An Audit of a Twin Island State Pilot Program.

作者信息

Belle Jarvis Shivon, Hadeed Edda, Lee Ketty, Hardy-Dessources Marie-Dominique, Knight-Madden Jennifer M, Richardson Claudine

机构信息

Paediatric Department, Sir Lester Bird Medical Centre, Michael's Mount, St. John's, Antigua and Barbuda.

Gambles Medical Centre, Friars Hill Road, St. John's, Antigua and Barbuda.

出版信息

Int J Neonatal Screen. 2023 Mar 1;9(1):14. doi: 10.3390/ijns9010014.

DOI:10.3390/ijns9010014
PMID:36975852
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10052052/
Abstract

The prevalence of Sickle Cell Disease (SCD) within the Caribbean region remains second only to that of West Africa. The Newborn Screening (NBS) Program in Antigua and Barbuda remains heavily dependent on grants, therefore ultimately facing sustainability challenges. Early intervention and implementation of preventative measures post-NBS result in significant improvements in morbidity, quality of life, and survival. This audit reviewed the pilot SCD NBS Program in Antigua and Barbuda from September 2020 to December 2021. A conclusive result was received by 99% of babies eligible for screening, 84.3% of which were HbFA, whilst 9.6% and 4.6% were HbFAS and HbFAC, respectively. This was comparable to other Caribbean countries. Sickle Cell Disease was noted in 0.5% of babies screened, which translates to 1 in 222 live births. Eighty-two percent of mothers were aware of their sickle cell status, compared to 3% of fathers. The importance of instituting a quality improvement team post the initiation of a screening program and the need for a robust public education program have been demonstrated by this audit.

摘要

镰状细胞病(SCD)在加勒比地区的患病率仅次于西非。安提瓜和巴布达的新生儿筛查(NBS)项目严重依赖赠款,因此最终面临可持续性挑战。新生儿筛查后早期干预和实施预防措施可显著改善发病率、生活质量和生存率。本次审计回顾了2020年9月至2021年12月在安提瓜和巴布达开展的镰状细胞病新生儿筛查试点项目。99%符合筛查条件的婴儿获得了明确结果,其中84.3%为血红蛋白F(HbFA),而血红蛋白F与镰状细胞血红蛋白(HbFAS)和血红蛋白F与C(HbFAC)分别占9.6%和4.6%。这与其他加勒比国家相当。在接受筛查的婴儿中,0.5%被诊断为镰状细胞病,即每222例活产中有1例患病。82%的母亲知晓自己的镰状细胞状态,而父亲知晓率为3%。本次审计证明了在筛查项目启动后设立质量改进团队的重要性以及开展强有力的公共教育项目的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44c/10052052/58d91f4836a7/IJNS-09-00014-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44c/10052052/b9f48b17b2d5/IJNS-09-00014-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44c/10052052/58d91f4836a7/IJNS-09-00014-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44c/10052052/b9f48b17b2d5/IJNS-09-00014-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44c/10052052/58d91f4836a7/IJNS-09-00014-g002.jpg

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本文引用的文献

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Newborn screening for sickle cell disease in sub-Saharan Africa: Is the glass half-full yet?撒哈拉以南非洲地区镰状细胞病的新生儿筛查:情况是喜忧参半吗?
Pediatr Blood Cancer. 2021 Jul;68(7):e29137. doi: 10.1002/pbc.29137. Epub 2021 May 21.
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Newborn Screening for Sickle Cell Disease in Europe.欧洲镰状细胞病的新生儿筛查
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Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence.
加勒比地区镰状细胞病的新生儿筛查:现状与疾病患病率的最新情况
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