title: Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease.
abstract: 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.affiliation: Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France. Electronic address: b.perniconi@institut-myologie.org.
authors.forename: Barbara
authors.initials: B
authors.lastname: Perniconi
authors.affiliation: Service de gynécologie obstétrique, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France.
authors.forename: Daniele
authors.initials: D
authors.lastname: Vauthier-Brouzes
authors.affiliation: Service de Pneumologie et Réanimation Médicale Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Paris 06, INSERM, UMR S 1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Morélot-Panzini
authors.affiliation: Service de gynécologie obstétrique, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Dommergues
authors.affiliation: Service de gynécologie obstétrique, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France; Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France.
authors.forename: Jacky
authors.initials: J
authors.lastname: Nizard
authors.affiliation: Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France.
authors.forename: Nadjib
authors.initials: N
authors.lastname: Taouagh
authors.affiliation: Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France.
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Hogrel
authors.affiliation: Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Canal
authors.affiliation: Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Servais
authors.affiliation: Paris-Est Neuromuscular Center, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforêt
mesh_terms: D000328:Adult; D000767:Anesthesia, Epidural; D019468:Disease Management; D056947:Enzyme Replacement Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000628:therapy*; D006801:Humans; D007751:Labor, Induced; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy*; D014620:Vacuum Extraction, Obstetrical
keywords: Enzyme replacement therapy (ERT); Glycogen Storage Disease type II (GSDII); Pompe disease