A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France

Collection of a second DBS card if the parents accept the pGS-NBS for their newborn

questionnaire on information process of parents informed about pGS-NBS

interview with a member of the HSS team on reasons for declining /accepting pGS-NBS

questionnaire on results delivery in parents having accepted the pGS-NBS

validated anxiety and depression scales to assess the psychosocial impact and perceived utility for 90 families whose child screened negative among which 30 families will be interviewed. Interviews and validated anxiety and depression scales will be suggested to all families receiving positive screening results

follow-up of true positives and false negatives based on medical records (vital status, care pathways) until 5 years after results delivery