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:
Spina bifida occulta - a mild form of spina bifida in which the spinal cord and the surrounding structures remain inside the baby, but the back bones in the lower back area fail to form normally. There may be a hairy patch, dimple, or birthmark over the area of the defect. Other times, there may be no abnormalities in the area.
Meningocele - a moderate form of spina bifida in which a fluid-filled sac is visible outside of the back area. The sac does not contain the spinal cord or nerves.
Myelomeningocele - a severe form of spina bifida in which the spinal cord and nerves develop outside of the body and are contained in a fluid-filled sac that is visible outside of the back area. These babies typically have weakness and loss of sensation below the defect. Problems with bowel and bladder function are also common. A majority of babies with myelomeningocele will also have hydrocephalus, a condition that causes the fluid inside of the head to build up, causing pressure inside of the head to increase and the skull bones to expand to a larger than normal size.
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 seven out of 10,000 live births in the US.
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 obesity, 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.
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 4 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:
Exposure to hazardous chemicals/substances
Lack of proper vitamins and nutrients in the diet
Prescription drug and alcohol consumption
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. Current research is focused on looking at how genes control neurulation or the forming of the neural tube. Understanding this will assist in the prevention of neural tube defects.
Additional risk factors include:
Maternal age (spina bifida is more commonly seen in teenage mothers)
History of miscarriage
Birth order (first-born infants are at higher risk)
Socioeconomic status (Children born into lower socioeconomic families are at higher risk for developing spina bifida. It is thought that a poor diet, lacking essential vitamins and minerals, may be a contributing factor).
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 pregnancy, 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:
Abnormal appearance of the baby's back, varying from a small, hairy patch or a dimple or birthmark, to a sac-like protrusion that is found along the back bone area.
Bowel and bladder problems (i.e., constipation, incontinence)
Loss of feeling below the area of the lesion, especially in babies born with a meningocele or myelomeningocele
Inability to move the lower legs (paralysis)
The baby may also have other problems related to spina bifida that include the following:
Hydrocephalus (increased fluid and pressure in the head area; occurs in about 80 to 90 percent of cases)
Orthopedic (bone) problems
Lower than normal intelligence level (although 80% of children will have normal intelligence)
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:
Blood tests - The American College of Obstetrics and Gynecology (ACOG) recommends that a blood test be offered between 15 to 20 weeks to all women who are pregnant who have not previously had a child with an ONTD and who do not have a family history of ONTD. This blood test measures alpha-fetoprotein (AFP) levels and other biochemical markers in the mother's blood to determine whether her pregnancy is at increased risk for an ONTD. AFP is a protein normally produced by the fetus that crosses the placenta into the mother's blood. Generally, if a fetus has an ONTD, the alpha-fetoprotein level in the mother's blood will be increased. Although this test does not tell for certain whether a fetus has an ONTD, it will determine which pregnancies are at greater risk, so that additional testing may be performed.
Prenatal ultrasound (also called sonography) - a diagnostic imaging technique which uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels. Prenatal ultrasound may be able to detect an ONTD, and may be used to examine other organs and body systems of the fetus.
Amniocentesis - a procedure that involves inserting a long, thin needle through the mother's abdomen into the amniotic sac to withdraw a small sample of the amniotic fluid for examination. The fluid is then tested to determine the presence of alpha-fetoprotein, which occurs with an open neural tube defect. Small or closed defects may not be picked up by this test.
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:
Your baby's gestational age, overall health, and medical history
The extent and type of spina bifida
Your baby's tolerance for specific medications, procedures, or therapies
Expectations for the course of spina bifida
Your opinion or preference
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:
Repair and closure of the lesion
Treatment of hydrocephalus
Orthopedic problems may include curvatures in the back, hip dislocations, ankle and foot deformities, and contracted muscles. Babies and children with spina bifida are also very susceptible to breaking their bones since their bones may be weaker than normal.
Bowel and bladder problems
Bowel and bladder problems may require surgery to improve function in elimination, for incontinence, constipation, or when the bladder does not empty completely.
Following surgery, you will receive instructions on caring for your baby at home. Education may include the following:
Examining the skin, especially over bony areas such as the elbows, buttocks, back of the thighs, heel, and foot areas. Recommendations may include changing your baby's position frequently to prevent skin breakdown and pressure sores.
Promoting bowel and bladder function
Ways to feed you baby and monitor your baby's nutrition
Promoting activity and mobility
Encouraging age-appropriate growth and development
Not all babies will require surgical repair of spina bifida. Non-surgical management of spina bifida may include the following:
Positioning aids (used to help the child sit, lie, or stand)
Braces and splints (used to prevent deformity, promote support or protection)
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.
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. Aggressive physical and occupational rehabilitation, as well as appropriate educational interventions through a multidisciplinary approach, can maximize the child's functional capacity.
The full extent of the problem is usually not completely understood immediately after birth, but may be revealed as the child grows and develops.
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.