National Maternity Hospital

Glycaemic Management and Pregnancy Outcomes in HNF1A ‐ MODY

ABSTRACT Introduction Birthweight of HNF1A ‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be...

The palliative care needs of adolescents and young adults with a life limiting condition: a systematic review

Adolescence and young adulthood is characterised by complex developmental and psychosocial changes. The diagnosis of a life-limiting condition adds complexity and stress to this already turbulent period of life. Provision of developmentally appropriate palliative care to this gro...

Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY ( ODYSSEY ): a cohort study

ABSTRACT Objective To determine the retrospective yield of prenatal exome sequencing (PES) by establishing the proportion of children with a postnatal monogenic diagnosis that could have been diagnosed prenatally if PES had been available. Methods The study cohort comprised a sam...