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Spina Bifida

Definition

SB (SB) is a birth defect. It is a problem with how the spine and spinal cord form. SB can start to form in a fetus before the mother even knows she is pregnant. In some cases, structures that should be inside the spinal canal can slip out, such as:

  • The thin layer that surrounds the spinal cord
  • Nerve roots that link nerves to the spinal cord
  • The spinal cord
  • Back bones—may be deformed

Spina Bifida

Spinabifida
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There are three kinds of spina bifida:

  • Occulta—small defect in one or more backbones, least severe form, usually no health problems
  • Meningocele—membranes poke through an open part of the spine and can form a cyst
  • Myelomeningocele—most severe form of SB , membranes poke through and contain nerve roots or spinal cord and can lead to:
    • Paralysis and lack of bowel and bladdercontrol may occur—often not cured by surgery
    • Hydrocephalus—a build up of fluids in the brain that raises pressure on the brain

Causes    TOP

The cause of SB isn’t known. There is a strong genetic factor for some with SB.

Studies have shown a link between a low folate diet in the mother and birth defects. In particular, low folate diets are linked to a higher risk of SB.

Risk Factors    TOP

SB is more likely in females. Other things that raise the risk of SB are:

  • Family history of SB
  • A mother who had a prior pregnancy with a neural tube defect
  • Low blood level of folic acid in the mother at the time of conception
  • Diabetes in the mother
  • Certain medicines given during pregnancy

Symptoms    TOP

Occulta may not have any symptoms. Some with this type may never know they have SB. There may be a small tuft of hair or change in skin color over the low back.

The symptoms of meningocele and myelomeningocele are:

  • Sac filled with fluid leading out from the baby's spine
  • Spinal cord and tissue that may stick out of the back

Diagnosis    TOP

Prenatal Testing

A blood test of the mother before birth can predict the risk of SB. If the test predicts a high risk of neural tube defects, then two more tests may be done:

  • Amniocentesis—a sample of the fluid around the baby is taken to measure for factors that point to problems of the spine
  • Ultrasound—a test that uses sound waves to look at the fetal spine

A diagnosis before birth can help you and your doctor make plans. Surgery may be needed soon after birth.

After Birth Testing

After birth, meningocele and myelomeningocele can be seen. Many tests will be needed to find out which bones and nerves are involved. The kidneys may also be harmed. They will need to be watched closely.

Most children with occulta SB will never be diagnosed. It rarely causes any symptoms. It also has few problems. It may be found during a routine medical exam orx-rays of the lower back.

Treatment    TOP

Occulta SB doesn’t need treatment.

Meningocele SB is treated with surgery. It is done to remove the cyst. This form of SB can be treated.

Treatment for myelomeningocele SB is complex. It may include:

Surgery

During surgery, the nerves, membrane, and spinal cord are put back into place. It will be done within 24-48 hours after birth. In some cases, it may be done before birth.

Surgery is done as early as possible to prevent further nerve damage. It cannot reverse damage that has happened.

More serious forms of SB may require more surgeries throughout childhood.

Physical Therapy

Therapists will teach parents how to exercise the infant's legs and feet. Walkers, braces, and crutches will often be needed to let the baby move around.

Ongoing Treatment    TOP

Complications of SB can be ongoing and extensive. It will be important for you to work with a team of doctors. You will need to get help for your child's physical needs and emotional support for you and your family.

Prevention    TOP

To lower the chance that your baby will be born with SB:

  • If you plan to have a baby, take folic acidsupplements before the baby is conceived. They should also be continued throughout the pregnancy. A vitamin supplement that has folate may be the best method of getting folate, but you can get it from food as well. Foods with folate are:
    • Leafy green vegetables
    • Orange juice
    • Beans
    • White flour products and cereals fortified with folate
  • Plan your pregnancy. Talk to your doctor if you have any of the risk factors listed above. Ask your doctor if any medicine that you are taking raises the risk of having a baby with SB .

RESOURCES:

Spina Bifida Association of America
http://www.spinabifidaassociation.org

CANADIAN RESOURCES:

Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca
Spina Bifida and Hydrocephalus Association of Canada
http://www.sbhac.ca

References:

Aherens K, Yazdy MM, Mitchell AA, Werler MM. Folic acid intake and spina bifida in the era of dietary folic acid fortification. Epidemiology. 2011;22(5):731-737.
Shin M, Besser LM, Siffel C, et al. Prevalence of spina bifida among children and adolescents in 10 regions in the United States. Pediatrics. 2010;126(2):274-279.
Spina bifida. American Academy of Pediatrics Healthy Children website. Available at:
...(Click grey area to select URL)
Updated November 21, 2015. Accessed July 2, 2018.
Spina bifida. EBSCO DynaMed Plus website. Available at: http://www.dynamed.com/topics/dmp~AN~T115300/Spina-bifida. Updated December 15, 2017. Accessed July 2, 2018.
T Alegra, F Vairo, et al. Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis. Genet Mol Biol 2012; 35(4 supplemental):947-954.
Last reviewed June 2018 by Kari Kassir, MD
Last Updated: 7/2/2018

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