1. 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

2. 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

3. 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 through the NIH Registry and MDF Patient Registry

4. 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 (SD 222.5)
19.3% have DM2
CCTG repeat length (7299.0)
388 pregnancies

5. Assistive Reproductive Technology Use
Item
1st pregnancy
2nd pregnancy and 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%

6. Pregnancy Complications in DM1 and DM2
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
Miscarriage (%)
3.9
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)

7. 1st Pregnancy Complications (DM1 and DM2 specific)
Mothers with DM1
Mothers with DM2
Pre-eclampsia (%)
9.8
20.0
Low birth weight (%)
18.0
12.0
Polyhydramnios (%)
23.8
Pre-term labor (%)
29.5
Miscarriage (%)
2.5
Stillbirth (%)
Peripartum hemorrhage (%)
16.4
Infection (%)
1.6
None (%)
35.2
56.0

8. 2nd and greater pregnancy Neonatal complications in Mothers with DM1
Pregnancy Outcome
Outcome
1st pregnancy
2nd and greater pregnancy
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
Hypotonia
32.8
7.4
Clubfoot
14.8
3.0

9. 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

10. Symptom Impact of Pregnancy in DM1 and DM2

11. Symptom Impact of Pregnancy in DM1

12. Symptom Impact of Pregnancy DM2

13. 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

14. 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