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.
摘要：
法国镰状细胞病（SCD）的新生儿筛查,自1995年以来，间接检测具有镰状细胞特征（SCT）的新生儿。必须根据2006年国家协商道德委员会的建议，将有关承运人身份的信息传达给家庭；但是，没有这方面的国家议定书。在诺德省和加来海峡省，区域新生儿筛查中心通过全科医生(GP)传送此信息.这项研究旨在评估当地做法向父母传输SCT信息的成功率。次要目标包括解释传输故障，评估后信息对筛查率，并对SCT信息传播进行全国范围的评估。在这次回顾中,多中心研究，在2020年1月1日至12月31日期间,在Nord和Pas-de-Calais部门对家庭医生进行了SCT筛查新生儿的调查.在接受筛查的260名新生儿中，197符合分析条件。结果显示，31.2％的SCT新生儿的GP与父母明确共享信息。根据这些信息,随后的父母筛查占病例的13.6%。GP引用的未能传达信息的原因包括难以捉摸的家庭（52.5％），不熟悉或拒绝的角色（35％），有限的SCD知识（25%），和道德考量(12.5%)。这项研究强调了通过SCT将携带者状态信息传递给新生儿父母的困难和异质性。我们的发现可以作为开发新的信息传递方法的基础，鉴于法国国家卫生局对SCD新生儿筛查的推广。
