Complications of Pregnancy in Myotonic Dystrophy Study
This study conducted by Nicholas Johnson, MD, explores the pregnancy complications associated with Myotonic Dystrophy types 1 and 2. The research focused on factors like pre-eclampsia, low birth weight, polyhydramnios, preterm labor, and more in women with DM1 and DM2. Findings indicate significant challenges during pregnancy for women with Myotonic Dystrophy.
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Presentation Transcript
Complications of Pregnancy in Myotonic Dystrophy Nicholas Johnson, MD Assistant Professor of Neurology, Pediatrics, Pathology University of Utah On behalf of: JD Franklin, E Nasser, E Luebbe, J Hilbert, KA Hagerman, JW Day, E Ciafaloni, M Hung, CR Heatwole
Background Myotonic Dystrophies are multisystemic disorders due to a CTG repeat (DM1) or CCTG repeat (DM2) Prior reports of pregnancy complications include: DM1: abortions, polyhydramnios, ectopic pregnancy, placenta previa, preterm labor DM2: preterm labor
Methods Survey included demographics, obstetrical history, and Myotonic Dystrophy Health Index Short Form (MDHI-SF) Measured QOL prior, during, and after 1st pregnancy with: Overall MDHI-SF score Impact score (mean Likert x prevalence) Distributed to DM1 and DM2 women between the ages of 18-50 through the NIH Registry and MDF Patient Registry
Results: Demographics 151 women responded (39.7%) Mean age 38.7 (SD 6.9) Disease duration 14.4 years (9.5) 70.6% have DM1 CTG repeat length 330.5 (SD 222.5) 19.3% have DM2 CCTG repeat length 12414.3 (7299.0) 388 pregnancies
Assistive Reproductive Technology Use 1st pregnancy 2nd pregnancy and Item greater Maternal Age 27.6 (SD 5.5) 30.7 (SD 4.6) Assistive Technology In-vitro fertilization 17.2% 3.9% Hormone therapy 10% 1.4% Pre-implantation diagnosis 6.6% 1.9%
Pregnancy Complications in DM1 and DM2 Complications 1st pregnancy 2nd pregnancy and greater Pre-eclampsia (%) 11.9 2.0 Low birth weight (%) 16.5 2.3 Polyhydramnios (%) 19.2 2.8 Pre-term labor (%) 26.5 2.8 Miscarriage (%) 3.9 2.0 Stillbirth (%) 3.3 0.3 Peripartum hemorrhage (%) 13.2 2.2 Infection (%) 1.3 .8 None (%) 40.4 10.5 Mean gestational age 36.4 (SD 6.3) 37.1 (SD 5.1)
1st Pregnancy Complications (DM1 and DM2 specific) Complications Mothers with DM1 Mothers with DM2 Pre-eclampsia (%) 9.8 20.0 Low birth weight (%) 18.0 12.0 Polyhydramnios (%) 23.8 0 Pre-term labor (%) 29.5 12.0 Miscarriage (%) 2.5 12.0 Stillbirth (%) 2.5 0 Peripartum hemorrhage (%) 16.4 0 Infection (%) 1.6 0 None (%) 35.2 56.0
Pregnancy Outcome 1st pregnancy 2nd and greater pregnancy Outcome Child has myotonic dystrophy 47% yes, 28.2% unsure 30.9 yes, 38% unsure Neonatal complications in Mothers with DM1 Breathing problems 33.1 5.5 Needed ventilator 25.4 5.2 Feeding problems 33.6 6.0 Needed a feeding tube 36.1 6.0 Hypotonia 32.8 7.4 Clubfoot 14.8 3.0
Pregnancy does not affect overall DM quality of life Change not significant Subgroup analysis did not identify increased scores with DM type, age, number of pregnancies, ART, or presence of affected child 16 14 Average MDHI-SF Score 12 10 8 6 4 2 0 Prior During Pregnancy After Pregnancy Pregnancy
Symptom Impact of Pregnancy in DM1 and DM2 2 1.8 1.6 Impact Score 1.4 1.2 1 0.8 0.6 0.4 0.2 0 6 mo prior During *=p value <0.05 Theme 6 mo post
Symptom Impact of Pregnancy in DM1 2 1.8 1.6 Impact Score 1.4 1.2 1 0.8 0.6 0.4 0.2 0 6 mo prior During 6 mo post *=p value <0.05 Theme
Symptom Impact of Pregnancy DM2 2 1.8 1.6 Impact Score 1.4 1.2 1 0.8 0.6 0.4 0.2 0 6 mo prior During 6 mo post *=p value <0.05 Theme
Conclusions Increased rate of pregnancy complications in DM1 and DM2 High rate of potential congenital DM outcomes in respondents Specific symptoms may worsen with pregnancy
Thank You Supported by Myotonic Dystrophy Foundation Collaborators University of Utah Jeremy Franklin Man Hung University of Rochester Chad Heatwole Emma Ciafaloni Elizabeth Luebbe James Hilbert Stanford University Katherine Hagerman John Day Myotonic Dystrophy Foundation Eriko Nasser
