关于高负担国家镰状细胞病围产期筛查的定性证据综合。
完整摘要 · 中文译文
背景：镰状细胞病（SCD）筛查可通过预防和针对性治疗改善生活并降低死亡率，但筛查项目在最能从中获益的地区并未普遍可及。我们旨在利用健康社会生态学模型，了解SCD活产患病率较高国家的产前和新生儿SCD筛查项目的实施考虑因素。 方法：我们对SCD病例与活产比最高的三十个国家中与SCD产前和新生儿筛查项目相关的定性证据进行了系统评价。我们纳入了2004年至2024年间发表的18篇文献，涵盖九个国家，并使用批判性评估技能计划（CASP）定性研究清单对每篇文献进行了评估。通过与数据的递归交互，我们使用反思性主题分析解释性地形成了四个主题，并使用GRADE-CERqual方法评估了我们的主要发现。 结果：我们采用健康社会生态学模型来构建我们的研究结果，该模型将健康的影响因素分为个体、社区和系统三个层面。从宏观到微观，我们的主题是：（1）可持续的镰状细胞病（SCD）筛查项目需要政府提供财政和政治支持，并整合到现有的医疗基础设施中；（2）关于SCD的经验和知识分享有助于促进对新生儿筛查的进一步接受和机会；（3）进行SCD检测的决定对儿童和家庭均具有广泛影响；（4）产前和新生儿筛查模式为受影响儿童的父母提供了不同的行动选择。我们的政策建议侧重于从一开始就规划项目的可持续性、利用现有的社区知识、减轻病耻感，以及为家庭提供不同的检测选择。 结论：我们发现需要对SCD筛查项目的系统层面实施和外部资金的影响进行更多定性研究。我们呼吁通过支持植根于当地理解模式的知识分享项目来减少病耻感，并认识到SCD筛查决策既对家庭影响深远，又受到父母长期经历的影响。
完整摘要 · 英文原文
BACKGROUND: Sickle cell disease (SCD) screening can improve lives and reduce mortality through prevention and targeted treatment, but screening programmes are not universally available in the settings which could most benefit from them. We aimed to understand the implementation considerations for prenatal and newborn SCD screening programmes in countries with a high livebirth prevalence of SCD using the socioecological model of health. METHODS: We performed a systematic review of qualitative evidence relating to prenatal and newborn screening programmes for SCD in the thirty countries with the highest SCD case to livebirth ratio. We included 18 papers published between 2004 and 2024 that covered nine countries and performed the Critical Appraisal Skills Programme Qualitative Studies Checklist on each. Through recursive interaction with our data, we interpretively developed four themes using reflexive thematic analysis and used the GRADE-CERqual method to appraise our key findings. RESULTS: We framed our results using the socioecological model of health which organizes influences on health into individual, community, and systems levels. From macro to micro levels, our themes are (1) sustainable SCD screening programmes require financial and political support from government and integration into existing healthcare infrastructure, (2) experiences of and knowledge-sharing about SCD fosters further acceptance and opportunity for newborn screening, (3), the decision to conduct a SCD test has extensive ramifications for both child and family, and (4) prenatal and newborn screening modalities offer parents of affected children different options for action. Our policy suggestions focus on planning for programme sustainability at the outset, leveraging existing community knowledge, alleviating stigma, and providing different testing options for families. CONCLUSIONS: We identified the need for more qualitative inquiry on systems-level implementation of SCD screening programmes and impact of external funding. We call for decreased stigmatization by supporting knowledge-sharing programmes grounded in local modes of understanding and recognize SCD screening decisions as both consequential to families and shaped by parents' experiences over time.