Targeted neonatal screening of at-risk newborns for SCD in France 2005-2017

From 2005 to 2017, in metropolitan France, a national, descriptive, retrospective study was conducted, aiming to identify and analyse in the most comprehensive way, every case of failed neonatal targeted screening for sickle cell disease. All pediatric hematologists in metropolitan France were asked to report each case of screening failure in neonates with sickle cell disease since 2005. Experts compared and combined the collected data with those from the Association Française pour le Depistage et la Prevention des Handicaps de l’Enfant (AFDPHE). Targeted screening failures in neonates with sickle cell disease were defined as: any child with a late diagnosis of sickle cell disease (fortuitously or when confronted with complications) and any child for whom hemoglobin analysis was not conducted on day 3 of life, despite a correct systematic neonatal screening for the four other diseases.

Early diagnosis of sickle cell disease in neonates considerably decreases the related morbidity and mortality during the first 5 years of life, by preventing and addressing infectious, anemic, and vascular complications early. In metropolitan France, early diagnosis targeted neonatal screening of at-risk newborns, and was conducted via hemoglobin analysis from blood collected on a Guthrie card on the third day of life. This targeting was based on the geographical origins of both parents (malaria endemic areas are known to have a high prevalence of sickle cell disease) and on familial history of sickle cell disease syndrome. Confronted with an increased population miscege-nation, the Haute Autorite´ de sante´ (HAS) was questioned in 2012 about the relevance of maintaining this targeted screening rather than generalizing it to all newborns in France. The report published in 2014 was not in favor of generalized screening, arguing that there were no available data on the incidence of targeted screening failures or on the ethical and practical difficulties that medical teams faced in applying the targeted screening criteria. 24 cases of confirmed screening failures in neonates were found since 2005.