A qualitative evidence synthesis on perinatal screening for sickle cell disease in high-burden countries

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.

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.

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.

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.