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Our key objectives

  1. Determine the clinical care pathways for prenatal ES in each of the 7 Genomic Laboratory Hubs.

  2. Establish whether prenatal ES is understandable and acceptable to key stakeholders.

  3. Identify the education and information needs of parents and health professionals, and how they are best addressed.

  4. Establish the outcomes (diagnostic yield, referral rates, sources of referral, final diagnoses) of the prenatal ES service, compare these between regions and identify any factors (individual or service-related) associated with variation in outcomes.

  5. Identify any new ethical issues arising from offering the prenatal ES programme in the NHS and how health professionals can best be supported in addressing them.

  6. Determine the key features that constitute the optimal prenatal ES pathway from a service delivery, patient and professional perspective.

  7. Generate new evidence of the cost of prenatal ES versus standard tests for diagnosing prenatal anomalies

  8. Establish the cost and cost-effectiveness of implementing the optimal prenatal ES pathway.

  9. Provide formative feedback to stakeholders for the developing prenatal ES service.

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