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Spina Bifida

What is spina bifida?

Spina bifida, also called myelodysplasia, is a condition in which there is abnormal 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, instead of inside, the body. The defect can occur anywhere along the spine.

What are the types of spina bifida?

The types of spina bifida include the following:

Approximately 80 percent of defects are found in the lower back area. The remaining 20 percent of the defects are located in the back of the neck or upper back areas.

What causes spina bifida?

Spina bifida is a type of neural tube defect. Neural tube defects, including spina bifida (open spine) and anencephaly (open skull), are seen in one out of 2,000 live births.

During pregnancy, the human brain and spine begin as a flat plate of cells, which rolls into a tube, called the neural tube. If all or part of the neural tube fails to close, leaving an opening, this is known as an open neural tube defect (or ONTD). This opening may be left exposed (80 percent of the time), or covered with bone or skin (20 percent of the time).

Anencephaly and spina bifida are the most common types of ONTD, while encephalocele (in which there is a protrusion of the brain or its coverings through the skull) is much rarer. Anencephaly occurs when the neural tube fails to close at the base of the skull, while spina bifida occurs when the neural tube fails to close somewhere along the spine.

In over 95 percent of cases, an ONTD occurs without a prior family history of these defects. ONTDs result from a combination of genes inherited from both parents, coupled with environmental factors. For this reason, ONTDs are considered multifactorial traits, meaning "many factors," both genetic and environmental, contribute to their occurrence.

Some of the environmental factors that may contribute to ONTDs include uncontrolled diabetes in the mother, and certain prescription medications. According to the Centers for Disease Control and Prevention (CDC), the occurrence rate of ONTDs can vary from state to state and from country to country. The rate of ONTD occurrence in Arkansas is 7.8 out of 10,000 births and 30 out of 10,000 births in Washington. Ireland has the highest number of documented cases, where spina bifida occurs in approximately 4.2 out of 1,000 live births. The factors causing these differences are not well understood.

ONTDs are seen five times more often in females than males. Once a child with an ONTD has been born in the family, the chance for an ONTD to occur again is increased to 3 to 5 percent. It is important to understand that the type of neural tube defect can differ the second time. For example, one baby could be born with anencephaly, while a second baby could have spina bifida (not anencephaly).

Prevention of neural tube defects:

Because the neural tube closes 28 to 32 days after conception and before many women are aware they are pregnant, normal development of the brain and spinal cord may be affected during these first three to eight weeks of pregnancy by the following:

Although many factors related to the development of spina bifida, research has found that folic acid (vitamin B-9), a nutrient found in some green, leafy vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals, can help reduce the risk of neural tube defects. For this reason, the American College of Medical Genetics (ACMG) and the Centers for Disease Control and Prevention (CDC) recommend that all women of childbearing age take a multivitamin containing folic acid. If a couple has had a previous child with an ONTD, a larger amount of folic acid is recommended and can be prescribed by the woman's physician or healthcare provider. This allows the woman to take it for one to two months prior to conception, and throughout the first trimester of pregnancy, to reduce the risk of another child with ONTD.

Additional risk factors include:

In recent years, pioneer surgeons have developed an experimental technique for performing surgery prenatally to correct this condition before birth. The surgery, used in a research setting and performed between weeks 19 and 25 of pregancy, was first supported by the March of Dimes. Currently, the National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), is conducting a clinical trial to determine whether carrying out the procedure prenatally leads to an overall improvement for these children - with acceptable risks.

What are the symptoms of spina bifida?

The following are the most common symptoms of spina bifida. However, each baby may experience symptoms differently. Symptoms may include:

The baby may also have other problems related to spina bifida that include the following:

The symptoms of spina bifida may resemble other conditions or medical problems. Always consult your baby's physician for a diagnosis.

How is spina bifida diagnosed?

Diagnostic tests can be performed during pregnancy to evaluate the fetus for spina bifida. The tests include the following:

Management of spina bifida:

The primary goal of managing spina bifida is to prevent infection and to preserve the spinal cord and nerves that are exposed outside of the body. Specific management of spina bifida will be determined by your baby's physician based on:

A cesarean delivery is often performed to decrease the risk of damage to the spinal cord that may occur during a vaginal delivery. Babies born with a meningocele or a myelomeningocele usually require care in the neonatal intensive care unit (NICU) for evaluation and for surgery to close the defect. Surgery can help manage the problems, but it can not restore muscle function or sensation to a normal state. Surgical interventions may be needed for the following:

Following surgery, you will receive instructions on caring for your baby at home. Education may include the following:

Not all babies will require surgical repair of spina bifida. Non-surgical management of spina bifida may include the following:

Latex precautions:

Babies with spina bifida are at high risk for developing a latex allergy due to exposure to latex from multiple medical and surgical procedures. Precautions are taken by the healthcare team to reduce the baby's exposure to products that contain latex. Your baby's healthcare providers can help you identify products that contain latex and also find products that are latex-free.

Life-long considerations:

Since spina bifida is a life-long condition that is not curable, management often focuses on preventing or minimizing deformities and maximizing the child's capabilities at home and in the community. Positive reinforcement will encourage the child to strengthen his/her self-esteem and promote as much independence as possible.

The full extent of the problem is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.

Future pregnancies:

Genetic counseling may be recommended by your physician to discuss the risk of recurrence in a future pregnancy, as well as vitamin therapy (a prescription for folic acid) that can decrease the recurrence risk for ONTDs. Supplemental folic acid, a B vitamin, if taken one to two months prior to conception and throughout the first trimester of pregnancy, has been found to decrease the reoccurrence of ONTDs for couples who have had a previous child with an ONTD. You cannot obtain the proper amount of folic acid in a multivitamin. A prescription from an obstetrician or other healthcare provider is needed in order to receive the proper dosage.

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