Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I
A 23-year-old primiparous lady (Ms S) was referred to preconception clinic with known Hurler–Scheie syndrome (mucopolysaccharidosis 1). Ms S had been under the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, geneticists and endocrinologists in two tertiary referral hospitals throughout her pregnancy. She went on to deliver a live male child at 37/40 by elective caesarean section. As far as we are aware, this is the first case report of a term pregnancy in a woman with moderate to severe mucopolysaccharidosis 1 (MPS 1).
KeywordsForce Vital Capacity Carpal Tunnel Syndrome Enzyme Replacement Therapy Cord Blood Sample Restrictive Lung Disease
Many thanks to Tony Whitehouse and Katherine Pearce for their help with this paper.
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