The Impact of Pregnancy on Myotonic Dystrophy: A Registry-Based Study

Abstract

Background:The rate of symptom progression during pregnancy in myotonic dystrophy (DM) is not currently known. Further, there is little data regarding the rate of pregnancy complications and neonatal outcomes in DM.Objective:This study assesses symptom progression and complication rates during pregnancy in women with DM.Methods:DM women completed surveys regarding their prior pregnancies. Participants identified complications during their pregnancies and completed the Myotonic Dystrophy Health Index-Short Form (MDHI-SF) to measure their disease burden and identify the severity of select symptoms six-months prior to, during, and six-months after their first pregnancy.Results:152 women with DM reported on 375 pregnancies. Among these pregnancies, there was a 32.5% miscarriage rate. Some complications were common including: pre-term labor (27.8%), pre-eclampsia (10.4%), and peripartum hemorrhage (13.9%). Participants’ perception of their mobility and ability to perform activities, as measured by the MDHI-SF, worsened during pregnancy and did not recover during the post-partum period.Discussion:Miscarriage, maternal disease progression during pregnancy, and other pregnancy related complications may occur in DM. Women with DM should be counseled on these potential risks prior to considering pregnancy.

Clinical Dystrophia Myotonica first presenting as Gestational Diabetes

“…Increased plasma proinsulin levels as well as a higher than normal early secretory response following OGTT has also been described in these patients [7]. DM has been described in pregnancy in literature, with most patients describing a worsening of their symptoms throughout the antenatal period, as our patient who we present described a rapid decline in her functional status as her pregnancy progressed [19].…”

“…Patients with DM have higher incidence of polyhydramnios; which is thought to be secondary to reduced fetal swallowing probably because up to 50% of the offspring are affected; spontaneous abortions, ectopic pregnancies, post-partum hemorrhage due to uterine atony, as also described in our patient's first delivery, placenta previa and preterm labor [4,19].…”

Maternal Genetic Disorders in Pregnancy

“…32,33 A registry-based study reported a higher rate of miscarriages (32.0% vs 16.9%) in women with DM1 as well as increased use of assistive reproductive technology, as compared with the general population. 34 Ectopic pregnancies were increased in one case series, which may represent impaired tube mobility. 32 …”

“…Preterm birth, defined as delivery before 37 weeks’ gestation, is more common in women with DM1 with rates reported at 34%, 32 36.7%, 33 and 31% 34 compared with the baseline US population risk of 10%. Rudnik-Schöneborn and Zerres 32 reported that 15% to 20% of pregnancies delivered before 34 weeks’ gestation, late preterm deliveries (34–37 weeks’ gestation) occurred in about one-third of births, and only about half reached full term (after 37 weeks’ gestation).…”

“…Johnson and colleagues 34 conducted a registry-based study to investigate the impact of pregnancy on women with myotonic dystrophy. Women with DM1 reported a significant increase in the impact of mobility limitations, activity limitations, pain, emotional issues, and myotonia from before pregnancy to after pregnancy.…”