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

doi:10.1016/j.ejogrb.2012.02.020

European Journal of Obstetrics & Gynecology and Reproductive Biology

Volume 162, Issue 2, June 2012, Pages 153-159

https://doi.org/10.1016/j.ejogrb.2012.02.020 Get rights and content

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.

Introduction

Limited information is available to help obstetricians guiding their patients with hereditary neuromuscular disorders (NMD) in issues related to pregnancy and childbirth. Argov and de Visser [1] have addressed the main open questions, and in 2010 a workshop was organized by the European Neuromuscular Centre (ENMC) to give an overview of current knowledge and to summarize recommendations for women with NMD who are pregnant or wish to have children [2].

Here we report the obstetric histories of 178 patients with clinically well-defined NMD, i.e. myotonic dystrophy type 1 (DM1) and 2 (DM2), hereditary motor neuropathy or Charcot-Marie-Tooth disease (CMT), proximal spinal muscular atrophy (SMA), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD) and congenital myopathies (CM). The combined prevalence of genetic muscle diseases in Northern England is 37/100,000, and in addition CMT disease affects 40/100,000. Thus NMD account for a significant proportion of chronically ill patients [3].

The distribution of muscle weakness, the involvement of other tissues and the progression of the disease affect pregnancy-related risks to mother and fetus. Patients with DM have a multisystem disease of skeletal and smooth muscle, and SMA, LGMD and CM usually manifest in childhood or youth with proximally pronounced weakness in the legs. FSHD is characterized by weakness mainly of the shoulder girdle and facial muscles but can also affect other muscle groups, while distally pronounced muscle weakness and wasting are the clinical hallmarks of CMT (Fig. 1 and Table 1). For further reading, current reviews are available [4], [5], [6], [7], [8], [9].

Section snippets

Materials and methods

For this retrospective study we recruited 178 women from 1992 to 2010 with different NMD who completed at least one pregnancy. In total 380 pregnancies resulting in 315 live births were documented. The majority (130) of the participants were of German origin. In addition, 34 Australians, 4 Finns, 4 New Zealanders, 2 Austrians and one patient each from Italy, Luxembourg, Great Britain and India took part in the study. The clinical diagnoses were established by genetic tests, electrophysiological

Study group

The largest group was represented by mothers with myotonic dystrophy, subdivided into patients with DM1 (Curschmann Steinert's disease) and DM2 (proximal myotonic myopathy (PROMM)) (Fig. 2). Four of 25 SMA patients had SMA type II, 20 had SMA type III and one woman was affected by SMA type IV. The genetically heterogeneous group of CM consisted of five patients with central core disease, four patients with nemaline myopathy, one patient with cytoplasmic bodies and one patient with an

Comment

In this study, we addressed pregnancy course and outcome in a large series of women with rare NMD, which allowed a statistical comparison of obstetric risks. This was only possible through a long-term retrospective study which is limited by ascertainment and recording bias. Due to the development of the database over the years, not all items are recorded in the documented pregnancies, resulting in divergent total numbers.

Despite considerable handicap in many women, pregnancy outcome is

Acknowledgments

The authors would like to thank the referring neurologists and geneticists for their support, in particular Carina Wallgren-Pettersson of the Medical Genetics Department, Helsinki, Finland, and the German self-support group for muscle diseases (Deutsche Gesellschaft für Muskelkranke). We are grateful to the patients who participated in the study.

References (28)

Z. Argov et al.
What we do not know about pregnancy in hereditary neuromuscular disorders
Neuromuscul Disord
(2009)
S. Demol et al.
Breech presentation is a risk factor for intrapartum and neonatal death in preterm delivery
Eur J Obstet Gynecol Reprod Biol
(2000)
S. Rudnik-Schöneborn et al.
Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature
Eur J Obstet Gynecol Reprod Biol
(2004)
L. McLoughlin et al.
Anaesthesia for caesarean section in spinal muscular atrophy type III
Int J Obstetr Anesth
(2004)
T. Allen et al.
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section
Int J Obstet Anesth
(2007)
F. Norwood et al.
179th ENMC international workshop: pregnancy in women with neuromuscular disorders
Neuromuscul Disord
(2011)
F.L. Norwood et al.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
Brain
(2009)
T.D. Bird
Myotonic dystrophy type 1
J.C. Dalton et al.
Myotonic dystrophy type 2
T.D. Bird
Charcot-Marie-Tooth hereditary neuropathy overview

T.W. Prior et al.

Spinal muscular atrophy

E. Gordon et al.

Limb-girdle muscular dystrophy overview

R.J.L.F. Lemmers et al.

Facioscapulohumeral muscular dystrophy

Deutsche Gesellschaft für Gynäkologie und Geburtshilfe e.V. Diagnostik und Therapie hypertensiver...

Cited by (82)

Neuromuscular disorders and pregnancy
2023, Pratique Neurologique - FMC
Les maladies neuromusculaires et la grossesse coexistent le plus souvent en bons termes cependant la planification de la grossesse et une approche pluridisciplinaire permettent une prise en charge optimale des patientes. Certaines neuropathies tronculaires sont fréquentes en cours de grossesse comme le syndrome du canal carpien, d’autres compliquent un accouchement souvent dystocique comme l’atteinte du nerf fémoral. La grossesse peut influer sur l’évolution de certaines maladies neuromusculaires comme la myasthénie ou les myopathies inflammatoires avec un risque de décompensation notamment dans le post-partum. La pathologie causale peut modifier l’évolution de la grossesse (risque de fausse-couche), le déroulement de l’accouchement (recours à la césarienne) et avoir un impact sur l’enfant à naître (myasthénie néonatale, syndrome d’immobilité fœtale ou forme congénitale de certaines myopathies). Enfin la grossesse nécessite une adaptation de la prise en charge thérapeutique notamment dans les pathologies neuromusculaires dysimmunitaires.
Neuromuscular diseases and pregnancy usually coexist in good terms; however, optimal patient care requires a planned pregnancy and a multidisciplinary approach to management. Some focal neuropathies, such as carpal tunnel syndrome, are frequent during pregnancy while others, such as femoral nerve damage, complicate delivery. Pregnancy can influence the course of some neuromuscular diseases such as myasthenia gravis or inflammatory myopathies with a risk of decompensation, particularly in the post-partum period. The causal pathology may modify the course of the pregnancy (risk of miscarriage), delivery (caesarean section) or have an impact on the unborn child (neonatal myasthenia, foetal immobility syndrome or congenital form of some myopathies). Finally, pregnancy requires an adaptation of the therapeutic management, particularly in immune neuromuscular disorders.
Peri-Partum respiratory management in neuro-muscular disorders (IT-NEUMA-Pregn study): A proposal by an italian panel and a call for an international collaboration
2023, Pulmonology
Birth outcomes among women with congenital neuromuscular disabilities
2022, Disability and Health Journal
Women with disabilities are at an increased risk for adverse birth outcomes; however, research among women with congenital neuromuscular disabilities (cNMD) is limited.
To describe characteristics and compare birth outcomes among women with and without cNMD.
Data were from the Slone Birth Defects Study (case-control, conducted from 1976 to 2015), which collected information on demographic, reproductive, and lifestyle characteristics. cNMD included spina bifida, cerebral palsy, muscular dystrophy, contractures, or arthrogryposis and were identified by participant report. Those with cNMD were matched to participants without cNMD by interview year and study site. We use modified Poisson regression to estimate relative risks (RR) for low birthweight, macrosomia, preterm birth, and small/large-for-gestational age (SGA/LGA). Given the case-control design and overrepresentation of infants with congenital anomalies, data were weighted to reflect a 3% national prevalence of infants with congenital anomalies.
Women with cNMD (n = 125) were more likely to be white, nulliparous, have a cesarean section, have an unplanned pregnancy, report a pre-pregnancy BMI ≥25 kg/m², smoke during pregnancy, and report genitourinary infections. Women with cNMD had infants with shorter gestational length (mean difference: −7.44 days, 95% CI: −13.94, −0.95) compared to women without cNMD. cNMD was associated with higher risk of preterm birth (RR = 3.98, 95% CI: 1.33, 11.95) and SGA (RR = 2.14, 95% CI: 0.74, 6.15).
Women with cNMD were more likely to deliver preterm and have an SGA infant. These findings highlight disparities faced by women with cNMD and stress the need to provide optimal perinatal and reproductive care.
Clinical guideline no. 416: Labor, delivery, and postpartum care for people with physical disabilities
2021, Journal of Obstetrics and Gynaecology Canada
Décrire les pratiques fondées sur des données probantes en matière de prise en charge des soins pendant l'accouchement et la période post-partum chez les personnes ayant un handicap physique au Canada.
La présente directive clinique aborde les besoins des personnes ayant un handicap physique en mettant l'accent sur les problèmes de santé qui affectent la force et la mobilité, ainsi que sur ceux qui touchent les fonctions ou structures neurologiques ou musculosquelettiques. Bien que certains aspects de cette directive puissent s'appliquer aux personnes ayant une déficience intellectuelle, un trouble neurodéveloppemental ou un handicap sensoriel (p. ex., perte auditive ou visuelle) seulement, les besoins de cette population sortent du cadre de la présente directive.
Prestation de soins sûrs et empathiques aux personnes parturientes ayant un handicap physique.
La mise en œuvre de la présente directive permettra aux fournisseurs de soins de santé de mieux connaître les complications particulières que peuvent présenter les personnes ayant un handicap physique pendant l'accouchement et la période post-partum, ce qui augmentera la probabilité d'un accouchement sécuritaire.
Une revue de la littérature a été effectuée à l'aide des bases de données MEDLINE (474), Embase(36) et le Cochrane Central Register of Controlled Trials (CENTRAL; 28). Les résultats ont été filtrés pour obtenir des études observationnelles, des revues systématiques, des méta-analyses et des directives publiées en anglais depuis 2013. Les références de ces articles ont également été passées en revue.
Les auteurs ont évalué la qualité des données probantes et la solidité des recommandations en utilisant la méthodologie GRADE (Grading of Recommendations Assessment, Development and Evaluation). Voir l'annexe A en ligne (tableau A1 pour les définitions et tableau A2 pour l'interprétation des recommandations fortes et faibles).
Spécialistes en médecine fœto-maternelle, obstétriciens, médecins de famille, infirmières, sages-femmes, neurologues, physiatres et autres professionnels qui donnent des soins aux personnes ayant un handicap physique.
- 1
  Dans la documentation et les communications verbales et écrites, il est recommandé aux cliniciens d'utiliser un langage axé sur la personne d'abord (p. ex., « personne handicapée » ou « personne ayant un handicap » plutôt que « un handicapé » ou « une handicapée ») afin de mettre l'accent sur la personne plutôt que sur le handicap (forte, faible).
- 2
  Il y a lieu pour les cliniciens de dépister et d'atténuer les facteurs de risque de l'accouchement prématuré, tels que l'infection urinaire basse (forte, faible).
- 3
  Il est recommandé aux cliniciens d'enseigner comment reconnaître les signes du travail aux personnes qui ne peuvent ressentir les contractions, comme celles qui présentent une lésion médullaire (forte, faible).
- 4
  Il convient aux cliniciens d'offrir un déclenchement artificiel du travail afin de prévenir les problèmes de transport et de faciliter l'analgésie neuraxiale chez les personnes à risque de dysréflexie autonome (forte, faible).
- 5
  La consultation d'un obstétricien ou d'un spécialiste en médecine fœto-maternelle est recommandée en préconception ou en début de grossesse afin de définir les grandes lignes d'un plan de soins, lequel comprendra notamment le lieu d'accouchement, en fonction de l'accès à l’équipement et au personnel et leur disponibilité et de la capacité de surveiller l’état cardiovasculaire de la mère et l’état du fœtus séparément (forte, faible).
- 6
  Il y a lieu pour les cliniciens de tenir compte des ennuis de santé sous-jacents, des indications obstétricales, des souhaits et des préférences de la personne lors de la planification du mode d'accouchement. Il est recommandé de consulter une équipe interdisciplinaire (forte, faible).
- 7
  Les cliniciens doivent être conscients du risque de dysréflexie autonome de la personne et envisager la possibilité d'une dysréflexie autonome et d'une pré-éclampsie en présence de signes et symptômes de ces problèmes (forte, faible).
- 8
  Il est recommandé aux cliniciens de traiter la dysréflexie autonome chez les personnes ayant une lésion médullaire en reconnaissant et en traitant la cause sous-jacente, ce qui peut nécessiter d'accélérer le processus d'accouchement (forte, faible).
- 9
  En cas de personne parturiente ayant un handicap physique, il y a lieu pour les fournisseurs de soins de définir un plan d'accouchement intégrant l'anesthésie. Il est recommandé que ce plan comprenne la consultation prénatale avec le personnel d'anesthésie lorsque d'importants facteurs de risque obstétricaux ou anesthésiques sont présents (forte, faible).
- 10
  Il y a lieu d'encourager l'allaitement chez toute personne souhaitant allaiter, ce qui peut nécessiter l'accès à une conseillère en allaitement. Lorsqu'ils donnent des conseils sur l'allaitement, les cliniciens doivent discuter des risques de dysréflexie autonome, de la possibilité d'une montée de lait insuffisante et du fait que les difficultés de mobilisation peuvent nuire à la capacité d'allaitement exclusif, que leur médication nécessaire peut nuire à l'allaitement et que l'allaitement peut exacerber la fatigue ou un problème de santé sous-jacent (faible, très faible).
- 11
  Il y a lieu pour les cliniciens d'effectuer un dépistage de la dépression post-partum et de faire une recommandation pour soutien psychologique, lorsqu'indiqué (forte, faible).
Guideline No. 416: Labour, Delivery, and Postpartum Care for People with Physical Disabilities
2021, Journal of Obstetrics and Gynaecology Canada
Citation Excerpt :
The reason for this increased rate of cesarean delivery is not well understood. In a study by Awater et al.13 of women with muscular dystrophies, the increased frequency was attributed to reduced lung function, advanced or generalized muscle atrophy, and a high rate of breech or transverse presentation. Among women with SCI, SB, or paralysis, Crane et al.9 found a higher risk of preeclampsia/eclampsia (RR 1.34; 95% CI 1.00–1.79), preterm labour (RR 1.75; 95% CI 1.30–2.37), preterm rupture of membranes (RR 2.15; 95% CI 1.18-3.90), and breech or malpresentation (RR 1.55; 95% CI 1.12–2.16); women with SCI were found to have an increased risk of obstructed labour (RR 2.73; 95% CI 1.97–3.78).
To describe evidence-based practice for managing the labour, delivery, and postpartum care of people with physical disabilities in Canada.
This guideline addresses the needs of people with physical disabilities, with a focus on conditions that affect strength and mobility, as well as those that affect neurological or musculoskeletal function or structure. Although aspects of this guideline may apply to people with solely intellectual, developmental, or sensory disabilities (e.g., hearing and vision loss), the needs of this population are beyond the scope of this guideline.
Safe and compassionate care for people with physical disabilities who are giving birth.
Implementation of this guideline will improve health care provider awareness of specific complications people with physical disabilities may experience during labour, delivery, and the postpartum period and therefore increase the likelihood of a safe birth.
A literature review was conducted using MEDLINE (474), Embase (36), and the Cochrane Central Register of Controlled Trials (CENTRAL; 28) databases. The results have been filtered for English language, publication date of 2013 to present, observational studies, systematic reviews, meta-analyses, and guidelines and references in these publications were also reviewed.
The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation approach. See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and weak recommendations).
Maternal–fetal medicine specialists, obstetricians, family physicians, nurses, midwives, neurologists, physiatrists, and those who care for people with physical disabilities.
- 1
  In verbal and written communication and documentation, clinicians should use people-first language (e.g., “person with a disability” rather than “disabled person”), which emphasizes the person over the disability (strong, low).
- 2
  Clinicians should screen for and mitigate risk factors for preterm birth, such as bladder infection (strong, low).
- 3
  Clinicians should teach patients who cannot feel contractions, such as those with spinal cord injuries, how to identify signs of labour (strong, low).
- 4
  Clinicians should offer induction of labour to avoid issues associated with transportation and to facilitate neuraxial analgesia for patients at risk of autonomic dysreflexia (strong, low).
- 5
  Consultation with an obstetrician or maternal–fetal medicine specialist should occur in the pre-conception period or early in pregnancy to outline a plan of care, including location of birth, taking into consideration the availability of and access to equipment and personnel and the ability to monitor maternal cardiovascular status and fetal status on an individualized basis (strong, low).
- 6
  Clinicians should consider the patient's underlying health concerns, obstetrical indications, and wishes and preferences when planning mode of delivery. Consultation with an interdisciplinary team is recommended (strong, low).
- 7
  Clinicians should be aware of a patient's risk for autonomic dysreflexia and consider evaluating patients for autonomic dysreflexia and preeclampsia when signs and symptoms of these conditions are present (strong, low).
- 8
  Clinicians should treat autonomic dysreflexia in people with spinal cord injury by recognizing and addressing the underlying cause, which may require expediting delivery (strong, low).
- 9
  Care providers should create a delivery plan for people with physical disabilities that includes anaesthesia. This planning should include antenatal consultation with the department of anaesthesia when significant obstetrical or anaesthetic risk factors are present (strong, low).
- 10
  Patients who wish to breastfeed should be encouraged to do so; this may require access to a lactation consultant. When counselling patients on breastfeeding, clinicians should address the risk of autonomic dysreflexia, the possibility of impaired letdown, difficulties in mobilization that may hinder the patient's ability to exclusively breastfeed, how the patient's required medications might affect breastfeeding, and how breastfeeding might exacerbate fatigue or underlying conditions (weak, very low).
- 11
  Clinicians should screen for postpartum depression and make referrals for psychological support when indicated (strong, low).
Pregnancy and myopathies: Reciprocal impacts between pregnancy, delivery, and myopathies and their treatments. A clinical review
2021, Revue Neurologique
During pregnancy, women undergo physical and physiological changes, which can impact the neuromuscular disease course, but also delivery and fetus health. Generally, there is little impact on the disease course, but sometimes an impairment is noticed, which could be attributed to pregnancy and not to disease progression. Cardiac and respiratory functions have to be assessed at the beginning of pregnancy and a close follow-up is mandatory in case of disorder. Labour and delivery are often impacted. Labour is prolonged because of muscle weakness that is an increased risk of instrumental delivery or Cesarean sections. Patients with myotonic dystrophy are at risk of postpartum hemorrhage. Fetal loss can be associated with fetal disease in myotonic dystrophy, and is at high risk for patients with active inflammatory myopathy only.

View all citing articles on Scopus

View full text

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

Abstract

Objective

Study design

Results

Conclusion

Introduction

Section snippets

Materials and methods

Study group

Comment

Acknowledgments

Neuromuscul Disord

Eur J Obstet Gynecol Reprod Biol

Eur J Obstet Gynecol Reprod Biol

Int J Obstetr Anesth

Int J Obstet Anesth

179th ENMC international workshop: pregnancy in women with neuromuscular disorders

Neuromuscul Disord

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

Brain

Myotonic dystrophy type 1

Myotonic dystrophy type 2

Charcot-Marie-Tooth hereditary neuropathy overview

Spinal muscular atrophy

Limb-girdle muscular dystrophy overview

Facioscapulohumeral muscular dystrophy