From the Fondazione IRCCS Istituto Neurologico Carlo Besta (C. Pisciotta, D.C., I.T., P.S., D.P.), Milan; Department of Neurosciences, Reproductive Sciences and Odontostomatology (L.S., F.M., S.T.), Federico II University of Naples; Department of Neuroscience, Biomedicine and Movement Sciences (G.M.F., T.C.), University of Verona; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (A.S., M.G.), University of Genoa; IRCCS Ospedale Policlinico San Martino (A.S., M.G.), Genoa; Division of Neuroscience and INSPE (S.C.P.), IRCCS Ospedale San Raffaele, Milan; A.O. di Parma (I.A., M.C.T.), U.O. Neurologia; Università Cattolica del Sacro Cuore (L.P.); Fondazione Policlinico Universitario A. Gemelli IRCCS (L.P., C. Pazzaglia), Rome; Neuroscience Centre (A.Q.), Magna Graecia University and Neuroimaging Research Unit, IBFM-CNR, Germaneto, Catanzaro; Department of Medical Sciences (P.V.), Magna Graecia University, Catanzaro; Unit of Neurology and Neuromuscular Diseases (L.G., M.R., A.M., G.V.), Department of Clinical and Experimental Medicine, University of Messina; and Department of Woman, Newborn and Child (F.P.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and University of Milan, Italy.
Neurology. 2020 Dec 15;95(24):e3180-e3189. doi: 10.1212/WNL.0000000000010860. Epub 2020 Sep 14.
To collect information on frequency of pregnancy and delivery complications in Charcot-Marie-Tooth (CMT) disease and on CMT course during pregnancy.
Through an ad hoc online questionnaire, we investigated pregnancy and neuropathy course in women with CMT adhering to the Italian CMT Registry. Data were compared to those of controls (recruited among friends and unaffected relatives) and the Italian (or other reference) population.
We collected data on 193 pregnancies from 86 women with CMT (age 20-73 years) with 157 deliveries (81.4%) after a mean of 38.6 gestational weeks. In women with CMT, there were no differences compared to controls (59 pregnancies and 46 deliveries from 24 controls) and the reference population for miscarriages (11.4%) and planned (21.0%) and emergency (14.0%) cesarean sections. We found 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 in week 34-36 of gestation) compared to reference populations. Excluding twins, newborn weight did not differ from the reference population. Postpartum bleeding rate in patients with CMT (2.1%) was similar to that of the general population (2.4%). CMT status worsened during 18 of 193 pregnancies (9.3%) with no recovery in 16 of them and with similar figures in the CMT1A and non-CMT1A subtypes.
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. Worsening of CMT is not infrequent and occurs not only in CMT1A. Pregnant women with CMT should be monitored with particular care.
收集关于 Charcot-Marie-Tooth（CMT）疾病患者妊娠和分娩并发症的频率以及妊娠期间 CMT 病程的信息。
通过专门的在线问卷，我们调查了意大利 CMT 登记处中患有 CMT 的女性的妊娠和神经病变病程。将数据与对照组（从朋友和未受影响的亲属中招募）和意大利（或其他参考）人群的数据进行比较。
我们从 86 名患有 CMT 的女性（年龄 20-73 岁）中收集了 193 次妊娠的数据，其中 157 次分娩（81.4%），平均妊娠 38.6 周。与对照组（24 名对照组中有 59 次妊娠和 46 次分娩）和参考人群（流产率为 11.4%，计划性剖宫产率为 21.0%，紧急剖宫产率为 14.0%）相比，CMT 女性没有差异。我们发现前置胎盘（1.6%比 0.4%）、异常胎儿体位（8.4%比 4.5%）和早产（20.3%比 6.9%；大多数在妊娠 34-36 周）的发生率明显更高。排除双胞胎后，新生儿体重与参考人群无差异。CMT 患者（2.1%）的产后出血率与一般人群（2.4%）相似。193 次妊娠中有 18 次（9.3%）CMT 病情恶化，其中 16 次无恢复，CMT1A 和非 CMT1A 亚型的情况相似。
我们观察到 CMT 患者前置胎盘、异常分娩和早产的发生率较高，但妊娠结局、新生儿体重和健康状况与参考人群相似。CMT 的恶化并不罕见，不仅发生在 CMT1A 中。患有 CMT 的孕妇应特别注意监测。
