Registry examines pregnancy outcomes among women with Charcot-Marie Tooth disease

Women with Charcot-Marie Tooth disease experienced higher rates of placenta previa, abnormal non-vertex presentations and preterm deliveries compared with controls, according to findings from an Italian registry.

Results of the study, which were published in Neurology, also demonstrated that pregnancy outcomes, and newborn weight and health, were comparable to reference populations. Worsening of Charcot-Marie Tooth (CMT) disease was not unusual.

“Increased rate of pregnancy complications and instances of worsening of CMT during pregnancy have been described,” the researchers wrote. “However, there are no large systematic studies about this issue and recommendations for management of CMT during pregnancy are not available.”

Further, the literature that has been published is “somehow discrepant,” according to the researchers.

Chiara Pisciotta, MD, PhD, of the IRCCS Carlo Besta Neurological Institute Foundation in Milan, and colleagues formed a national registry of patients with CMT. They used an online questionnaire to examine the course of pregnancies and neuropathy among women with CMT in the registry. The researchers compared data from these patients with a control group, which included friends and unaffected relatives of patients, and the Italian (or other reference) population.

Pisciotta and colleagues analyzed data from 139 women with CMT and 31 age-matched controls. They observed no differences between women with CMT and healthy controls regarding age during the study period, age at the time of pregnancies and gestational week at the time of delivery. There were 193 pregnancies among 86 women with CMT, with 157 deliveries (81.4%) after a mean period of 38.6 gestational weeks, and 59 pregnancies — and 46 deliveries — among 24 women in the control group.

Among women with CMT, the study findings demonstrated no differences with controls and the reference population regarding miscarriages (11.4%) or planned (21%) and emergency (14%) cesarean sections. The researchers also found that rates of postpartum bleeding among patients with CMT (2.1%) was comparable to rates in the general population (2.4%). Apart from twins, newborns’ weight did not differ from the reference population.

However, Pisciotta and colleagues did observe a significantly higher frequency of placenta previa (1.6% vs. 0.4%), abnormal fetal presentations (8.4% vs. 4.5%) and preterm deliveries (20.3% vs. 6.9%), most of which occurred from 34 to 36 weeks’ gestation, compared with reference populations. Abnormal fetal presentations were non-vertex presentations and included nine breech presentations.

CMT status deteriorated during 18 of the 193 pregnancies (9.3%) among women with the disease, according to the researchers. Of the women whose disease worsened during pregnancy, 16 did not recover, and only one patient experienced a complete recovery. The follow-up period for patients who did not recover ranged from a minimum of 1.8 years to a maximum of 18.6 years, with a mean duration of 8.5 years. They observed similar figures in patients with CTM1A vs. non-CMT1A subtypes.

None of the offspring developed early-onset CMT that could have resulted in decreased fetal movements, Pisciotta and colleagues reported. Newborns’ health did not vary from controls and reference population and the rate of complications was similar.

“One of the main findings of our study is that the disease course of CMT worsened in a significant percentage of patients (16.3%) and pregnancies (9.3%), with further impairment of strength and sensation, increased occurrence of cramps, pain and fatigue, or appearance of new symptoms,” the researchers wrote. “Such worsening does not appear to be simply related to common disturbances during pregnancy occurring also in unaffected women, like cramps and fatigue, as they reverted or improved after delivery only in a minority of cases.”

However, the overall findings are “reassuring” regarding the course and outcomes of pregnancy among women with CMT, according to Pisciotta and colleagues.

“Our results ... highlight the need to support patients during and after pregnancy, especially at the end, due to a high rate of preterm deliveries, and the occurrence of CMT worsening, observed in this series,” the researchers wrote. “Pregnant [women with CMT] should be monitored with particular care.”