precise recurrence risk and prenatal diagnosis offered if indicated.32%(43/133) were referred to a specialist for the condition; 16%(23/133) informed re-orientation and palliative care. Current management and prognosis were supported in 16%(22/ 133) and specific treatment such as transplant or medication was provided in 13%(19/133). Specific screening was arranged in 5%(7/133). Conclusions This is the first NHS-based diagnostic service which provides rapid genetic diagnoses in acutely unwell children and the largest reported cohort of patients undergoing rapid exome sequencing. It demonstrates that this innovative and transformational national service has successfully provided rapid results while maintaining a high diagnostic rate. Most importantly, diagnoses have influenced both acute management in intensive care settings and long term management for children and their immediate and extended family members.
Background: Retinopathy of Prematurity (ROP) is a condition confined to the premature retina. Hence, it is more commonly associated with extreme prematurity and low birth weight.
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