Introduction/Aims The congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders that affect neuromuscular junction transmission. Data on pregnancy outcomes in women with CMS are limited due to their infrequency. In this study we explored pregnancy with CMS in a large cohort of women attending a national specialty clinic in England. Methods All women with CMS who had a documented pregnancy were invited to complete a questionnaire assessing clinical status during pregnancy and postpartum, pregnancy outcomes, fetal outcomes, and medication use during pregnancy. Results Among 16 women with CMS (acetylcholine receptor deficiency [CHRNE], slow channel syndrome [CHRNA1], DOK7, RAPSYN and glycosylation [DPAGT1 and GFPT1]), 27 pregnancies were recorded: 26 single pregnancies and 1 twin pregnancy. Symptom worsening was reported in 63% of pregnancies, but recovery to baseline function was seen in all but one patient. Miscarriage and cesarean section occurred in 31% and 33% of the women, respectively. Over half of the patients continued taking their medication during pregnancy, which included pyridostigmine (n = 10), 3,4‐diaminopyridine (n = 9), ephedrine (n = 3), salbutamol (n = 3), and quinidine (n = 1). No fetal malformations were recorded. Discussion Our results show that clinical worsening during pregnancy was common but rarely persistent. The majority of women with CMS can safely plan pregnancy, but close follow‐up is required from their neurology and obstetric teams. Although we identified no safety concerns, continued medication use should be reviewed on a case‐by‐case basis.
BackgroundThe congenital myasthenic syndromes(CMS) are a heterogenous group of genetic disorders leading to disordered neuromuscular junction transmission. Due to their rarity, data on pregnancy outcomes is limited.MethodsAll CMS women with documented pregnancy were invited to complete a pregnancy and outcomes audit questionnaire.ResultsAmongst 16 women with CMS there were 27 pregnancies recorded: 26 single and 1 twin pregnancy. CMS related symptom worsening was reported in 63%, (AChR deficiency in 2/6, slow channel syndrome in 2/3, DOK7 in 8/9, RAPSYN in 3/6 and glycosylation {DPAGT1 and GFPT1} in 2/3), improvement was only reported in 2 (both RAPSYN). Recovery to baseline function was seen in all but one patient.Miscarriage and caesarean section occurred in 31% and 33% of women. Over half of patients continued their medication during pregnancy which included: pyridostigmine (10), 3,4-DAP (9), ephedrine (3), salbutamol (3) and quinine (1). No foetal malformations were recorded.DiscussionWe report pregnancy outcomes in a relatively large CMS cohort. Whilst clinical worsening is common, it was usually reversible, and rates of miscarriage and caesarean section appeared similar to the background population.1Foetal outcomes appeared good and no safety signal was generated in relation to medication use during pregnancy.Reference1. Child and Maternal Health. 3/11/2020]; Available from: https://fingertips.phe.org.uk/profile/ child-health-profiles/data#page/1/gid/1938133222
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.