Complications of Pregnancy in Myotonic Dystrophy Nicholas Johnson, MD Assistant Professor of...

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