Myelomeningocele (Spina Bifida)

Myelomeningocele, a severe form of spina bifida, is an open spinal cord defect visible outside of the back area. Spina bifida is a neurological condition that causes a portion of the spinal cord and surrounding structures to develop outside, instead of inside, the body, according to specialists at the University Center for Fetal Medicine. 

Evaluation

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It may be diagnosed on routine ultrasound or ultrasounds done for abnormal maternal screening. Fetal MRI is used to assess the level of defect and associated anomalies. The MRI (right) indicates the spinal cord is protruding through an opening in the back.

Treatment

An National Institutes of Health-sponsored clinical trial of fetal intervention for myelomeningocele suggests that surgery to address the defect may be most effective if performed on the fetus. Until recently, surgery traditionally had been performed after birth. Amniocentesis and genetic counseling are recommended. Routine pregnancy care is continued throughout the pregnancy.

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The MRI (bottom right) indicates a Chiari II malformation in the brain. The complex congenital malformatiomn of the brain is often associated with myelomeningocele.

Delivery should occur at a tertiary care center as the neonate will need an MRI, neonatal intensive care and neurosurgical services. Postnatal surgical repair of the defect will occur within the first few days of life. The neonate will remain in the NICU throughout the remainder of the hospital stay.

Long-term follow-up with pediatric neurosurgery, orthopedic surgery and occupational therapy will be needed to minimize deformities and maximize the child's capabilities. Genetic counseling may be recommended to discuss the risk of recurrence in a future pregnancy. 


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