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

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.