Potential for a large‐scale newborn screening strategy for sickle cell disease in Mali: A comparative diagnostic performance study of two rapid diagnostic tests (SickleScan® and HemotypeSC®) on cord blood

• DOI: 10.1111/bjh.19108
• Publication Date: 2023-09-20T11:35:08Z
• Authors: Aldiouma Guindo; Zenab Cisse; Ibrahima Keita; Sophie Desmonde; Yeya dit Sadio Sarro; Boubacari A. Touré; Mohamed Ag Baraika; Oumarou Tessougué; Pierre Guindo; Moussa Coulibaly; Oumar Traore; Niagalé Sylla; Mahamadou Diassana; Amaguiré Saye; Valentina Picot; Emilie Lauressergues; Valériane Leroy
• Keywords: Gold standard (test)

Summary Sickle cell disease (SCD) is a life‐threatening requiring reliable early diagnosis. We assessed the acceptability and diagnostic performances of two rapid tests (RDTs) to identify SCD (HbSS, HbSC, HbS/β‐thalassaemia) or carrier (HbS/HbC) in pilot newborn screening (NBS) strategy Mali. All consenting delivering women were offered NBS using cord blood sampling on RDTs (SickleScan® HemotypeSC®) compared high‐performance liquid chromatography (HPLC) gold standard detect states. From April 2021 August 2021, 4333 eligible whom 96.1% NBS: 1.6% refused, 13.8% delivered before 84.6% consented; 3648 newborns diagnosed by HPLC; 1.64% had (0.63% HbSS, 0.85% 0.16 HbS/β‐plus‐thalassaemia); 21.79% carrier. To accurately SCD, SickleScan® sensitivity 81.67% (95% confidence interval [CI]: 71.88–91.46) negative predictive value (NPV) 99.69% CI: 99.51–99.87); HemotypeSC® 78.33% 67.91–88.76) NPV 99.64% 99.44–99.83). carrier: was 96.10% 94.75–97.45) NPV, 98.90% 98.51–99.29); 95.22% 93.74–96.70) 98.66% 98.24–99.03). Routine acceptable. Compared with HPLC, both exclude SCD‐free carriers be further confirmed. This could implemented large‐scale programmes.