Patterns:
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Women with DM1 can have a complicated pregnancy, labor, and delivery, including premature delivery or prolonged labor that can have impact on the newborn.
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The baby may be born with congenital-onset DM1, with severe neonatal complications, including respiratory and swallowing abnormalities.
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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:
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Babies with congenital-onset DM1 may have the following prenatal and neonatal signs of varying severity:
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Swallowing difficulties, leading to polyhydramnios during pregnancy and poor feeding at birth, possibly requiring tube feeding.
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Respiratory muscle abnormalities, possibly requiring mechanical ventilation at birth.
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Poor muscle tone and lack of fetal movement.
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Abnormal presentation.
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Club foot or other joint problems.
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Abnormal accumulation of fluid in the body.
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Enlarged ventricles in the brain.
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Reduced fetal movement.
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Diagnosis:
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Discuss the following tests with your doctor:
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Preimplantation genetic diagnosis to determine whether the embryo is affected.
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Prenatal genetic diagnosis to determine if the fetus has the DM1 genetic expansion (see Genetic counseling).
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Treatment:
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High-risk obstetrician or neonatal specialist at delivery if the mother is affected.
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Availability of neonatal intensive care, including possible tube feeding or ventilatory support.
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Accces to neonatal and consulting specialists who can manage genetic, respiratory, GI, orthopedic, neuromuscular, neurosurgical, and cardiac issues.
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Refer to pediatric neuromuscular multidisciplinary clinic on discharge from the neonatal unit to manage the many issues that children with CDM will encounter.