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Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients

      Abstract

      Objective

      Information about pregnancy and delivery in hereditary neuromuscular disorders (NMD) is limited and largely restricted to small case series and single case reports. Further data of obstetric histories in clinically and genetically defined subgroups are required.

      Study design

      We reviewed the obstetric histories of 178 patients with myotonic dystrophy type 1 (DM1) and 2 (DM2), Charcot-Marie-Tooth disease (CMT), spinal muscular atrophy (SMA), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), and congenital myopathy (CM) by means of questionnaires and medical reports. Patients were recruited in the period 1992–2010 after they had at least completed one pregnancy. A total of 380 pregnancies resulting in 315 children were documented.

      Results

      Compared to the normal German population, the number of miscarriages and hypertensive diseases in pregnancy was not increased in the cohort. Patients with NMD delivered more frequently by vaginal operations (8.9–18.2%) and by cesarean births with significantly high rates in DM1 (36.7%) and SMA (42.4%). Preterm deliveries were recorded in 30.7% of DM1, 12.6% of DM2, and 29.4% of SMA gestations. Abnormal fetal presentation occurred significantly more frequently in DM1 (34.6%) and LGMD (26.7%) deliveries and was a feature of chairbound patients. Considering a possible influence of pregnancy on the disease course, about half of LGMD, one-third of SMA, and one fifth of CMT patients reported a deterioration of symptoms in pregnancy. Neonatal outcome was favorable in all NMD but DM1, where infantile morbidity and mortality is often but not exclusively related to congenitally affected children.

      Conclusion

      Our data are important for obstetric care and genetic counseling of women with NMD who are contemplating pregnancy.

      Key words

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      References

        • Argov Z.
        • de Visser M.
        What we do not know about pregnancy in hereditary neuromuscular disorders.
        Neuromuscul Disord. 2009; 19: 675-679
        • Norwood F.
        • Rudnik-Schöneborn S.
        Neuromuscul Disord. 2011; (epub ahead of print)https://doi.org/10:1016/j.nmd.2011.05.009
        • Norwood F.L.
        • Harling C.
        • Chinnery P.F.
        • Eagle M.
        • Bushby K.
        • Straub V.
        Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
        Brain. 2009; 132: 3175-3186
        • Bird T.D.
        Myotonic dystrophy type 1.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
        • Dalton J.C.
        • Ranum L.P.W.
        • Day J.W.
        Myotonic dystrophy type 2.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
        • Bird T.D.
        Charcot-Marie-Tooth hereditary neuropathy overview.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
        • Prior T.W.
        • Russman B.S.
        Spinal muscular atrophy.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
        • Gordon E.
        • Pegoraro E.
        • Hoffman E.P.
        Limb-girdle muscular dystrophy overview.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
        • Lemmers R.J.L.F.
        • van der Maarel S.M.
        Facioscapulohumeral muscular dystrophy.
        in: Pagon R.A. Bird T.D. Dolan C.R. GeneReviews [Internet]. University of Washington, Seattle1993–2011
      1. Deutsche Gesellschaft für Gynäkologie und Geburtshilfe e.V. Diagnostik und Therapie hypertensiver Schwangerschaftserkrankungen. Available from: http://www.dggg.de/fileadmin/public_docs/Leitlinien/3-3-4-sws-hochdruck-2010.pdf. Retrieved November 2, 2011.

        • Kiechle M.B.
        Gynäkologie und Geburtshilfe.
        1st ed. Elsevier Urban & Fischer, Munich, Germany2007
        • Chatterjee J.
        • Gullam J.
        • Vatish M.
        • Thornton S.
        The management of preterm labour.
        Arch Dis Child Fetal Neonatal Ed. 2007; 92: F88-F93
      2. Das Informationssystem der Gesundheitsberichtserstattung des Bundes. Available from: http://www.gbe-bund.de/. Retrieved November 2, 2011.

        • Demol S.
        • Bashiri A.
        • Furman B.
        • Maymon E.
        • Shoham-Vardi I.
        • Mazor M.
        Breech presentation is a risk factor for intrapartum and neonatal death in preterm delivery.
        Eur J Obstet Gynecol Reprod Biol. 2000; 93: 47-51
        • Rudnik-Schöneborn S.
        • Zerres K.
        • Ignatius J.
        • Rietschel M.
        Pregnancy and spinal muscular atrophy.
        J Neurol. 1992; 239: 26-30
        • Rudnik-Schöneborn S.
        • Röhrig D.
        • Nicholson G.
        • Zerres K.
        Pregnancy and delivery in Charcot-Marie-Tooth disease type 1.
        Neurology. 1993; 43: 2011-2016
        • Rudnik-Schöneborn S.
        • Glauner B.
        • Röhrig D.
        • Zerres K.
        Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies.
        Arch Neurol. 1997; 54: 888-894
        • Rudnik-Schöneborn S.
        • Zerres K.
        Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature.
        Eur J Obstet Gynecol Reprod Biol. 2004; 114: 44-53
        • Rudnik-Schöneborn S.
        • Schneider-Gold C.
        • Raabe U.
        • Kress W.
        • Zerres K.
        • Schoser B.G.H.
        Outcome and effect of pregnancy in myotonic dystrophy type 2.
        Neurology. 2006; 66: 579-580
        • Hoff J.M.
        • Gilhus N.E.
        • Daltveit A.K.
        Pregnancies and deliveries in patients with Charcot-Marie-Tooth disease.
        Neurology. 2005; 64: 459-462
        • Ciafaloni E.
        • Pressman E.K.
        • Loi A.M.
        • et al.
        Pregnancy and birth outcomes in women with facioscapulohumeral muscular dystrophy.
        Neurology. 2006; 67: 1887-1889
        • McLoughlin L.
        • Bhagvat P.
        Anaesthesia for caesarean section in spinal muscular atrophy type III.
        Int J Obstetr Anesth. 2004; 13: 192-195
        • Flunt D.
        • Andreadis N.
        • Menadue C.
        • Welsh A.W.
        Clinical commentary: obstetric and respiratory management of pregnancy with severe spinal muscular atrophy.
        Obstet Gynecol Int. 2009; 2009: 942301
        • Foster R.N.
        • Boothroyd K.P.
        Caesarean section in a complicated case of central core disease.
        Anaesthesia. 2008; 63: 544-547
        • Feyi-Waboso P.A.
        An audit of five years’ experience of pregnancy in spinal cord damaged women. A regional unit's experience and a review of literature.
        Paraplegia. 1992; 30: 631-635
        • Eskandar O.S.
        • Eckford S.D.
        Pregnancy in a patient with nemaline myopathy.
        Obstet Gynecol. 2007; 109: 501-504
        • Allen T.
        • Maguire S.
        Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section.
        Int J Obstet Anesth. 2007; 16: 370-374
        • Gamzu R.
        • Shenhav M.
        • Fainaru O.
        • Almog B.
        • Kupferminc M.
        • Lessing J.B.
        Impact of pregnancy on respiratory capacity in women with muscular dystrophy and kyphoscoliosis. A case report.
        J Reprod Med. 2002; 47: 53-56