Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease

Journal article

Pregnancy and delivery are challenging in women affected by Pompe disease with respiratory involvement. We describe a 28-year-old woman, who continued to receive enzyme replacement therapy during pregnancy and had an uneventful vaginal birth. Before pregnancy the patient's vital capacity was 52% in sitting position and 51% in supine position. At 32 weeks gestation her vital capacity in sitting position was 46% and 35% in supine position. Nocturnal non-invasive mechanical ventilation was introduced at this time. Labor was induced at 34 weeks following premature rupture of membranes, under epidural anesthesia. A 2590 g healthy baby was delivered by vacuum extraction. Assisted ventilation was continued throughout labor and post-partum. This observation suggests a successful pregnancy and a normal vaginal delivery can be achieved in patients with symptomatic Pompe Disease, provided multidisciplinary care is offered.

Authors: Perniconi, B; Vauthier-Brouzes, D; Morélot-Panzini, C; Dommergues, M; Nizard, J

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Elsevier
• Journal: Neuromuscular Disorders
• Volume: 26
• Issue: 9
• Pages: 610-613
• Publication date: 2016-06-27
• Acceptance date: 2016-06-24
• DOI: 10.1016/j.nmd.2016.02.016
• EISSN: 1873-2364
• ISSN: 0960-8966
• Pmid: 27460347
• Language: English
• Keywords: humans; female; enzyme replacement therapy; disease management; FFR; pregnancy; glycogen storage disease type II; labor, Induced; vacuum extraction, obstetrical; pregnancy complications; adult; anesthesia, epidural