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Pregnancy and Maternal Care

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Inherited Metabolic Diseases

Abstract

An increasing number of women with rare inherited disorders of metabolism are becoming pregnant. In general, outcomes for women and their children are good, but there are a number of issues that need to be considered. Limited specific guidance on the management of these conditions in pregnancy is available. Pre-pregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health and long-term health of children should be offered. With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, and the risk of metabolic decompensation in disorders of energy metabolism or intoxication significantly reduced. Multidisciplinary management, and close liaison between obstetricians and other specialists, is required for those women in whom there is cardiac, renal, respiratory, joint or other organ involvement. The aim of this chapter is not to suggest definitive treatment or provide a review of pregnancy in all potential inherited disorders of metabolism, but instead to use specific examples to highlight how these disorders may impact on pregnancy and the puerperium, with emphasis on both maternal and foetal outcome.

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Acknowledgements

This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health’s NIHR Biomedical Research Centres’ funding scheme.

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  1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    Elaine Murphy

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  1. Elaine Murphy
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Correspondence to Elaine Murphy .

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  1. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany

    Georg F. Hoffmann

  2. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  3. Department of Pediatrics, University of California San Diego , La Jolla, California, USA

    William L. Nyhan

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Murphy, E. (2017). Pregnancy and Maternal Care. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_11

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