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.