{
  "abstract": "Background Recent advances in gene therapy, stem cell therapy, and enzyme replacement therapy offer early treatment potential for single-gene disorders. However, stakeholder perspectives on these interventions remain underexplored. This scoping review aimed to explore parental, patient and professional perspectives on prenatal and early postnatal therapies for single-gene disorders.Methods A scoping review was conducted using the JBI methodology and reported in accordance with the PRISMA-ScR reporting guidelines. Medline, Embase, PsycINFO and CINAHLplus were systematically searched in February 2025. Eligible studies reported stakeholder perspectives on therapies administered during pregnancy or within the first two years of life. Studies without direct stakeholder perspectives or addressing later-stage therapies were excluded. Data were extracted and thematically analysed using framework analysis.Results Nine studies (four qualitative, four quantitative and one mixed methods), including 995 participants, were identified. Three themes emerged: (1) Acceptability – prenatal and postnatal therapies were generally acceptable, particularly among families with prior experience of the condition; (2) Perceived benefits – clinical and psychological benefits of early intervention were highlighted; (3) Concerns – stakeholders raised ethical issues, decision-making complexity and uncertainty around long-term safety.Conclusion Parents and professionals were hopeful about the potential of early therapies but expressed concerns about safety and the existing consent process. Tailored decision-making frameworks that address emotional, ethical and informational challenges are essential to support families and clinicians navigating these complex interventions. Professionals will need to be educated to facilitate clinical implementation of these therapies. Further research should engage more diverse stakeholder groups to ensure equitable and patient-centred adoption of these therapies.Acknowledgements for Funding or Support MH was funded to undertake this work by an NIHR Great Ormond Street Hospital Biomedical Research Centre Pre-Application Support Fund Award",
  "authors": [
    {
      "affiliations": [
        "UCL Medical School, UK"
      ],
      "name": "Melinda Abraham Victor"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, UK"
      ],
      "name": "Melissa Hill"
    }
  ],
  "title": "150 Listening before birth: Scoping review of parent and professional views on early therapies for genetic conditions",
  "uid": "edc9dfdc-270e-5bb6-a1b0-d28ddb375abd"
}