尼日利亚镰状细胞病新生儿筛查新计划。

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2024-09-30 DOI:10.3390/ijns10040067
Aisha A Galadanci, Umma A Ibrahim, Yvonne Carroll, Yusuf D Jobbi, Zubaida L Farouk, Aisha Mukaddas, Nafiu Hussaini, Bilya Sani Musa, Lauren J Klein, Michael R DeBaun
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引用次数: 0

摘要

在撒哈拉以南非洲地区,新生儿镰状细胞病(SCD)筛查很少。尼日利亚卡诺的阿米努-卡诺教学医院(Aminu Kano Teaching Hospital,AKTH)的领导层在当地宗教当局的支持下,建立了一项开创性的 SCD 新生儿筛查项目,该项目已成为孕妇及其新生儿的标准医疗服务。我们的项目包括:(1)在产前门诊为所有孕妇提供产前遗传咨询;(2)新生儿筛查;(3)为确诊为 SCD 和 SCT 的新生儿父母提供产后遗传咨询;(4)将患有 SCD 的新生儿转介到 SCD 综合护理门诊进行 3 个月的随访。从 2020 年 9 月至 2023 年 12 月,该团队在 AKTH 筛查了 7530 名 SCD 婴儿,发现 126 名(1.7%)婴儿患有 SCD,1546 名(20.5%)婴儿患有 SCT。其中,93 名(73.8%)患有 SCD 的新生儿接受了个体化遗传咨询,43 名(46%)在 3 个月前被转诊至 SCD 综合护理门诊。为 778 名(50.3%)被确认患有 SCT 的新生儿的父母提供了集体遗传咨询。目前,AKTH 的 SCD 新生儿筛查已成为标准护理,这表明在低收入环境中持续开展 SCD 新生儿筛查项目,提供产前和产后遗传咨询以及全面的 SCD 护理是可行的。
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A Novel Newborn Screening Program for Sickle Cell Disease in Nigeria.

Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting.

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来源期刊
International Journal of Neonatal Screening
International Journal of Neonatal Screening Medicine-Pediatrics, Perinatology and Child Health
CiteScore
6.70
自引率
20.00%
发文量
56
审稿时长
11 weeks
期刊最新文献
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