Pregnancy and Delivery Outcomes in Women with Charcot-Marie Tooth Disease

Pregnant woman sitting on bed at home holding her bump
The course of pregnancy and delivery outcomes were not different between women with Charcot-Marie Tooth and the general population, suggesting that the disease may not affect pregnancy.

Among women with a diagnosis of Charcot-Marie-Tooth (CMT), the course of pregnancy and delivery outcomes were not significantly different compared with the general population, according to study results published in Neurology.

The objective of this study was to elucidate the pregnancy and delivery complications in CMT, as well as the course of this disease during pregnancy.

Using the Italian CMT national registry and an ad hoc online questionnaire, study researchers retrospectively collected data on frequency of pregnancy and delivery outcomes of 139 patients with CMT and 31 age-matched related control patients, as well as the Italian population. Of these, 93 patients with CMT disease and 24 patients in the control group became pregnant during the period between 1960 and 2015.

Data included detailed information on pregnancy course from questionnaires completed by 86 women with CMT (age, 20-73 years; 193 pregnancies and 157 deliveries [81.4%] with 163 newborns) and 24 controls (59 gestations and 46 deliveries).

Demographic and clinical information on women with CMT disease and control patients showed no significant differences in pregnancy rate for women (1.6 vs 1.9, respectively), mean age at pregnancy (28.7 vs 29.5 years, respectively), or mean gestational week at delivery (38.6 vs 38.9 weeks).

As for pregnancy outcomes and complications, data indicated miscarriages in 22 of 193 pregnancies (11.4%) with CMT disease; the rate was similar in the reference population (9.6%) but was elevated in controls (9 of 59 women [15.3%]). The voluntary abortions rate was similar in women with CMT and controls (7.3% vs 6.8%, respectively), but was higher in the reference population (13.8%).

Placenta previa was more common in women with CMT compared with the reference population (1.6% vs. 0.4%, respectively). Furthermore, abnormal fetal presentation (8.4% vs 4.5%) was more common in the former, and all but 1 required cesarean section. Preterm deliveries were more common in women with CMT compared with the reference populations (20.3% vs 6.9%), but most occurred in week 34–36 of gestation.  

Type of delivery in women with CMT did not differ from that of the control or reference populations. There were only 3 instances of postpartum bleeding in women with CMT disease (2.1%), but study researchers observed no difference compared with the reference population. Additionally, the rate and type of complications in newborns of women with CMT did not differ from controls and the reference populations.

Results indicated that CMT disease status worsened during 18 of 193 pregnancies (9.3%) in 14 of 86 patients (16.3%). There was no recovery at all from worsening after delivery for 14 of the 18 pregnancies, with little recovery in 2 cases, good recovery in 1 patient, and complete recovery in only 1 patient.

Study researchers collected data on 44 patients with the CMT1A subtype and 42 patients with other types of CMT. Data indicated that worsening CMT status was similar between patients with CMT1A and patients with other forms of CMT. All 3 instances of placenta previa occurred in patients with CMT1A. However, the difference compared with the non-CMT1A group was not significant.

The study had several limitations, including the retrospective design and data based mainly on the recollection of patients. Additionally, the pregnancies reported by the patients occurred during a long period (1960-2015), and the data reported for the reference population were mostly related to the last decades.

“We observed higher rates of placenta previa, abnormal presentations, and preterm deliveries in CMT, but pregnancy outcome and newborn weight and health were similar to those of the reference populations,” concluded the study researchers.


Pisicotta C, Calabrese D, Santoro L, et al. Pregnancy in Charcot-Marie-Tooth disease: data from the Italian CMT national registry. Neurology. Published online, December 15, 2020. doi:10.1212/WNL.0000000000010860