Psychosocial issues of neonatal screening in the context of its major expansion: A scoping review

Anne-Laure Sébert^1,2*Marcela Gargiulo^3,4Pascale De Lonlay^5,6,7Jean-Baptiste Arnoux^5,7Daniel Vaiman⁶Céline Bensimon^1,2,5Marco Araneda^1,2

• ¹Université Paris Cité, Paris, France
• ²Centre de Recherches Psychanalyse, Médecine et Société, Université Paris Diderot, Paris, France
• ³Laboratory of Clinical Psychology, Psychopathology, Psychoanalysis, Faculté Sociétés et Humanités, Université Paris Cité, Paris, France
• ⁴Institut de Myologie, Service de Neuromyologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique–Hôpitaux de Paris, Paris, France., Paris, France
• ⁵Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Imagine Institute, INEM, Filière G2M, Paris, France., Paris, France
• ⁶INSERM -1151, Paris, France, Paris, France
• ⁷MetabERN., Paris, France

Background: Newborn screening (NBS) programs began in the 1960s in the US and Europe. Systematically offered at birth, these programs enable early detection of serious, rare, often inherited diseases, facilitating timely treatment and improving survival. The range of detectable diseases has expanded significantly, with inclusion criteria evolving since inception. Recent genomic advances allow detection of all DNA mutations, enabling identification of conditions typically diagnosed later in life and/or without effective treatment or preventive interventions are currently available. This expansion raises ethical and psychosocial concerns. Objectives: To explore psychosocial challenges associated with NBS expansion. Methods: Between May 2022 and March 2024, a global scoping review was conducted using three databases and grey literature. PRISMA guidelines were followed, and thematic analysis synthesized findings. Results: Of 623 articles identified between 1997 and 2023, 68 met inclusion criteria, with 9 additional grey literature references, totaling 77 publications. Most studies originated from North America (n = 45) and Europe (n = 26), predominantly in healthcare sciences (n = 41), particularly medicine (n = 29), and in humanities and social sciences (n = 23), especially psychology (n = 14). Literature mainly addressed parents' experiences following abnormal NBS results; few studies explored healthcare professionals' or patients' perspectives. Three core thematic categories were identified: (1) parents' experience of abnormal results and impact on parent–child relationships; (2) strategies to mitigate psychosocial risks, including professional and public education; and (3) challenges related to NBS expansion. Discussion: Themes were interpreted as higher-level psychosocial constructs: (1) anxious and depressive dimensions of parental responses; (2) Vulnerable Child Syndrome shaping parental perceptions and caregiving practices; and (3) psychosocial implications of NBS expansion. Parental anxiety and depression were the most studied outcomes, particularly after abnormal or false-positive results. Current professional training and public education appear insufficient given rapid NBS evolution. Viewing NBS as a continuous process within family–healthcare relationships may mitigate psychosocial risks. Conclusion: Further research in psychology and social sciences is critical to better understand and address psychosocial risks, particularly for late-onset conditions and those without current treatment or prevention options.