Reproductive system

Reproductive System – DM1

Patterns:

• The deleterious effects of DM1 on both smooth and striated muscle can complicate pregnancy, labor and delivery.
• Added to these maternal complications is the possibility that the baby may have congenital-onset DM1, with severe neonatal complications, including respiratory and swallowing abnormalities.
• Women with DM1 have a higher than average rate of spontaneous abortion and stillbirth, although most can expect to have a normal vaginal delivery.

Symptoms:

• Mothers with DM1 are more likely than the general population to experience the following:
  • Ectopic pregnancy.
  • Premature delivery.
  • Prolonged labor and delivery.
  • Postpartum hemorrhage.
  • Uterine over distention with polyhydramnios which can lead to preterm labor, inadequate contractions during labor, premature rupture of the membranes or postpartum hemorrhage.
  • Untoward reactions to analgesia or anesthesia during labor and delivery.
  • Diminished ovarian reserve with delayed appearance of human chorionic gonadotropin (HCG) due to gonadal insufficiency.
• Reproductive history and DM1-related personal and family history, including current DM1 symptoms.
• Fatigue with more rapid onset than average during labor and increased risk of post-partum hemorrhage (PPH).

Diagnosis:

• Discuss the following tests with your doctor:
  • Preimplantation genetic diagnosis to determine whether the embryo is affected.
  • Prenatal genetic diagnosis to determine if the fetus has the DM1 genetic expansion (see Genetic counseling).

Treatment:

• Preimplantation genetic diagnosis can allow selective implantation of unaffected embryos.
• Prenatal diagnosis by amniocentesis or chorionic villus sampling can allow for termination of an affected pregnancy.
• High-risk obstetrician (Maternal-fetal medicine specialist) for prenatal care and delivery.
• Analgesics or sedating anesthetic drugs should be used extremely.
• Emergency medical alert devices.
• Pediatric or neonatal specialist at delivery if the mother is affected with DM1.
• Availability of neonatal intensive care, including possible tube feeding or ventilatory support, for neonates known, or suspected to have DM1.
• Consulting obstetrician before a decision to induce labor is made.
• Genetic counseling services and family planning services.

Reproductive System – DM2

Patterns:

• Pregnancy can exacerbate DM2. A few reports indicate that pregnancy can exacerbate or unmask the onset of myotonia and cause increased pain in DM2. More research is needed to confirm these observations.
• The effects of DM2 on both smooth and striated muscle can complicate pregnancy, labor and delivery.

Diagnosis:

• Discuss the following tests with your doctor:
  • Preimplantation genetic diagnosis to determine whether the embryo is affected or prenatal genetic diagnosis to determine if the fetus has the DM2 genetic expansion.
  • Reproductive and fertility/infertility history inculding personal and family history.

Treatment:

• Family planning.
• Refer to genetic counseling, family planning and other specialists as indicated.
• Prenatal and preimplantation genetic diagnosis can allow for termination of the pregnancy or selective implantation of unaffected embryos.

Reproductive System – CDM

Patterns:

• Women with DM1 can have a complicated pregnancy, labor, and delivery, including premature delivery or prolonged labor that can have impact on the newborn.
• The baby may be born with congenital-onset DM1, with severe neonatal complications, including respiratory and swallowing abnormalities.
• Knowing if a pre-neonate has a risk of CDM also enables the parents and the obstetric team to prepare for the birth of a DM1-affected baby.

Symptoms:

• Babies with congenital-onset DM1 may have the following prenatal and neonatal signs of varying severity:
  • Swallowing difficulties, leading to polyhydramnios during pregnancy and poor feeding at birth, possibly requiring tube feeding.
  • Respiratory muscle abnormalities, possibly requiring mechanical ventilation at birth.
  • Poor muscle tone and lack of fetal movement.
  • Abnormal presentation.
  • Club foot or other joint problems.
  • Abnormal accumulation of fluid in the body.
  • Enlarged ventricles in the brain.
  • Reduced fetal movement.

Diagnosis:

• Discuss the following tests with your doctor:
  • Preimplantation genetic diagnosis to determine whether the embryo is affected.
  • Prenatal genetic diagnosis to determine if the fetus has the DM1 genetic expansion (see Genetic counseling).

Treatment:

• High-risk obstetrician or neonatal specialist at delivery if the mother is affected.
• Availability of neonatal intensive care, including possible tube feeding or ventilatory support.
• Accces to neonatal and consulting specialists who can manage genetic, respiratory, GI, orthopedic, neuromuscular, neurosurgical, and cardiac issues.
• Refer to pediatric neuromuscular multidisciplinary clinic on discharge from the neonatal unit to manage the many issues that children with CDM will encounter.