The impact of screening sickle-cell carriers in the general population. A retrospective study in the Paris screening center]

Background. - Since 2006 the CIDD, the Paris information and screening center for sickle-cell disease, provides free assistance for adults who may be at risk of having children with sickle-cell disease. Recently, an increasing number of parents of a silent-carrier newborn detected by systematic neonatal screening are attending the center. We present a retrospective study of the impact of such information and screening on people. Methods. - The study involved 81 silent-carrier men and women aged 18 to 45 years, interviewed using a telephone questionnaire (n = 70) or during consultation (n = 11) one to three years after screening. Results. - The study group represented 12% of individuals attending the center with the same characteristics. In general, the information delivered concerning sickle-cell disease and silent-carriers was well understood although concerns about personal and family history and the correctness of prior knowledge revealed a lack of information input from the environment (media, schools, health professionals). Poorly assimilated information involved three subjects: the difference between trait and disease; the difference between type of hemoglobin and blood group; and Mendelian transmission. The screening result was not a cause of separation among couples and was often passed on to family or friends. Disparities in adherence to prenatal diagnosis and termination of pregnancy were mainly related to different representations of disease severity. Conclusion. - Joint screening of newborns and their parents is a good measure for adults, who are satisfied with being informed despite the psychological difficulties involved. However the implication for children detected remains a relevant issue because of the persistent perception of the trait as a pseudo-disease and the risk of reification of a biological difference between relatives. (C) 2015 Elsevier Masson SAS. All rights reserved.