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Influencing prenatal clinical management using exome sequencing

St George’s University Hospital implemented prenatal exome sequencing in cases of fetal structural abnormality in ongoing pregnancies as part of a service improvement project ahead of national availability. The diagnostic yield in this project to date is 31%. In this talk, Esther Dempsey outlines how a timely molecular diagnosis has facilitated disorder-specific interventions, such as labour management and optimisation of early neonatal care, using real-world examples.

Dr Esther Dempsey, BSc, MBBS, MSc, MRCPCH(2014)

British Heart Foundation Clinical Research Fellow and Honorary Specialist Registrar in Clinical Genetics, St George’s University of London

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