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Pregnancy in Pompe disease

Pregnancy in Pompe disease is still a rare event. Only few reports have been published. Physiological changes of pregnancy may be aggravated by Pompe disease or vice versa. Both may pose a risk for the mother and the unborn child. This talk outlines physiological changes of the cardiovascular, respiratory and hormonal system during pregnancy and delineates the impact on a 36-year-old Pompe patient with a twin pregnancy. Furthermore, recommendations for a prospective medical strategy are presented and a workflow for routine follow-up during pregnancy is suggested. Recommendations include the planning of the pregnancy, genetic counselling, and pre-pregnancy investigations. An interdisciplinary team consisting of an obstetrician, pulmonologist, internist, endocrinologist and anaesthesiologist is suggested for care of the pregnant patient with Pompe disease.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Plöckinger, U. Pregnancy in Pompe disease. BMC Musculoskelet Disord 14 (Suppl 2), O11 (2013).

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