Informing parents of newborns with sickle cell trait detected at neonatal screening: A northern France experience

Abstract

Neonatal screening for sickle cell disease (SCD) in France, targeted since 1995, indirectly detects newborns with sickle cell trait (SCT). Information about carrier status must be communicated to families in accordance with the 2006 National Consultative Ethics Committee recommendations; however, no national protocol for this exists. In the departments of Nord and Pas-de-Calais, the Regional Neonatal Screening Center transmits this information through a general practitioner (GP). This study aimed to assess the success rate of local practices in transmitting SCT information to parents. The secondary objectives included explaining transmission failures, evaluating post-information couple screening rates, and conducting a nationwide evaluation of SCT information dissemination. In this retrospective, multicenter study, family doctors were surveyed regarding newborns screened for SCT between January 1 and December 31, 2020, in the Nord and Pas-de-Calais departments. Among the 260 screened newborns, 197 were eligible for analysis. Results showed that 31.2% of newborns with SCT had their GP definitively sharing information with their parents. Based on this information, subsequent parental screening accounted for 13.6% of cases. The reasons cited by the GP for failing to convey information included elusive families (52.5%), unfamiliarity or refusal of the role (35%), limited SCD knowledge (25%), and ethical considerations (12.5%). This study highlights the difficulty and heterogeneity in transmitting carrier status information to parents of newborns with SCT. Our findings could serve as a foundation for the development of new methods for information transmission, given the generalization of neonatal screening for SCD by the French National Authority for Health.