Complications of Pregnancy in Myotonic Dystrophy

Nicholas Johnson, MD Assistant Professor of Neurology, Pediatrics,

PathologyUniversity 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

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%

Pregnancy Complications in DM1 and DM2Complications 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 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 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

Prior Pregnancy

During Pregnancy

After Pregnancy

0

2

4

6

8

10

12

14

16

Ave

rage

MD

HI-S

F Sc

ore

Symptom Impact of Pregnancy in DM1 and DM2

0

0.2

0.4

0.6

0.8

1

1.2

1.4

1.6

1.8

2

6 mo prior

During

6 mo postTheme

Impa

ct S

core

*=p value <0.05

Symptom Impact of Pregnancy in DM1

0

0.2

0.4

0.6

0.8

1

1.2

1.4

1.6

1.8

2

6 mo priorDuring6 mo postTheme

Impa

ct S

core

*=p value <0.05

Symptom Impact of Pregnancy DM2

0

0.2

0.4

0.6

0.8

1

1.2

1.4

1.6

1.8

2

6 mo priorDuring6 mo postTheme

Impa

ct S

core

*=p value <0.05

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