Spina bifida, also known as myelomeningocele, is a congenital defect that affects the development of the back bones, spinal cord, surrounding nerves and the fluid-filled sac that surrounds the spinal cord. This neurological condition can cause a portion of the spinal cord and the surrounding structures to develop outside the body. The sac-like lesion can occur anywhere along the spine. Many of the infants born with spina bifida may also have hydrocephalus, in which increasing pressure inside the head causes the skull bones to expand.
Spina bifida is a relatively common birth defect occurring in approximately one in 2,000 live births. It is found five times more often in females than males.
Fetal spina bifida can be diagnosed by ultrasound examination prior to birth between 18–22 weeks of pregnancy. This diagnosis is made in conjunction with a blood test to confirm what is found on the ultrasound. Fetal magnetic resonance imaging (MRI) may be performed to provide additional information regarding the anatomy of the spine and brain.
After fetal spinal bifida is diagnosed, the staff in Lurie Children’s Divisions of Orthopaedic Surgery and Neurosurgery counsels the parents and prepares them for what to expect when their baby is born. Plans are made to assure that the baby is delivered in a hospital that has a neonatal intensive care unit (NICU) with a neonatologist present at the delivery. Often times a cesarean delivery is necessary to avoid damaging the baby's spinal cord.
Research is still being done to determine if performing surgery on the fetus in utero is beneficial to the infant after he is born. Researchers hypothesize that early repair may prevent hydrocephalus; however, any surgery performed in utero has additional risks. It is anticipated that the results of these studies will determine if fetal intervention can improve the long-term outlook for children with spina bifida.