Spina Bifida

Spina bifida [SPY-nuh BIH-fih-duh] is a defect that happens before a baby is born. Also called open spine, myelomeningocele [my-el-oh-meh-NINN-joh-see uhl], and myelodysplaysia [my-el-oh-diss-PLAY-shee-ah], spina bifida happens when the spine fails to close and nerves don’t adequately connect to the legs, bladder, and anus. It affects each child in different ways, often causing severe symptoms that need treatment. Learn more about spina bifida.

Spina bifida happens in the uterus (womb) when a baby’s spine does not close. During the first month of pregnancy, a hollow tube of cells turns into the brain and spinal cord. The cells start out flat and then fold in to form the tube. The tube closes between day 18 and day 28 of the pregnancy. If the tube does not close, a sac forms on the baby’s back. This sac is soft and usually covered with very thin skin. The sac contains spinal fluid and the malformed spinal cord.

Normally, the spinal cord sends nerves to the legs, bladder, and anus. In spina bifida, some of these nerves may not connect to these areas, making them hard or impossible to control.

There are several words used to describe spina bifida. The most common ones are:

• Spina bifida
• Open spine
• Myelomeningocele [my-el-oh-meh-NINN-joe-seal]
• Myelodysplasia [my-el-oh-diss-PLAY-shia]

Every year, 1 out of every 1,000 babies born has spina bifida. We do not know the cause of spina bifida. However, we know it is more common for mothers who have already had a baby with spina bifida.

The sac that holds the spinal cord and fluid can form at different places along the back. It may be larger in some babies than in others. For these reasons, babies have different problems.

Some common symptoms include the following:

• Hydrocephalus [hahy-druh-SEF-uh-luh s]. Hydrocephalus means “water of the brain.” It happens when too much fluid collects in the cavities (ventricles) of the brain. Most babies with spina bifida develop hydrocephalus.
• Abnormal bladder and bowel function. Almost all infants with spina bifida do not have nerves to the bladder and bowel. This means that your baby may not be able to empty their bowels or bladder completely.
• Paralyzed legs. With spina bifida, there are less nerves that go to the legs and feet. Because of this, some or all of your baby’s leg muscles may be paralyzed or not work as well as they should.
• Lack of skin feeling. Your baby may not feel pressure, pain, friction, heat, or cold in their legs and feet because they have fewer nerves. However, above the sac, they should have near-normal strength and feeling.

You should see a doctor during pregnancy to monitor your baby’s development. Your doctor may detect signs of spina bifida. When your baby is born, a doctor or nurse should make sure they are healthy — during that exam, they will look for signs of spina bifida.

Children with mild cases of spina bifida may not show symptoms in the womb or at birth. If that is the case, your child may show the following signs of spina bifida:

• A hairy patch on the spine
• A dimple, dark spot, or swelling on the spine

These markers appear at the site of the gap in the spine. You should talk about these marks with your child’s doctor to find out if you should be concerned.

We don’t know what causes spina bifida, only that it happens when a baby’s growing spine does not close in the early days of pregnancy. As a result, a soft sac forms on the baby’s back containing spinal fluid and the malformed spinal cord. At the point the sac forms and below on the spine, the baby may have nerves that do not connect to the legs, bladder and anus.

Your doctor may diagnose spina bifida before your baby is born or after. When spina bifida is less severe (spina bifida occulta [uh-KUL-tah]), a doctor might not detect it until late childhood or adulthood or might not find it at all.

Tests during Pregnancy

Common tests during pregnancy include:

• Blood Test. A “triple screen” examines blood in several ways to look for neural tube defects, such as spina bifida, and other issues. One of these tests measures AFP, or alpha-fetoprotein (pronounced al-fuh FEE-toh-proh-teen), which the fetus produces. A high AFP level might mean that the child has spina bifida.
• Ultrasound. This safe procedure lets a doctor or technician take pictures of your baby in the womb using sound waves. Often, spina bifida can be identified through ultrasound.
• Amniocentesis [am-nee-oh-sen-TEE-sis]. This procedure is usually done between 15 and 20 weeks of pregnancy. It involves obtaining a very small sample of the amniotic fluid, the special fluid that surrounds your developing baby. Amniocentesis is called an invasive test because it requires going into your uterus with a needle to get the sample.

  The fluid from an amniocentesis can be screened for Down syndrome, trisomy 18, or cystic fibrosis as well as neural tube defects, such as spina bifida. During the third trimester, the fluid can be tested to check fetal lung development.

Tests after Birth

Sometimes spina bifida is discovered only after your baby is born, especially if you did not have prenatal tests or if the ultrasound could not give a clear picture of the spine. Sometimes there is a hairy patch, dimple, dark spot, or swelling on the baby’s back at the site of the gap in the spine. A doctor can examine the baby’s spine and bones in the back using an image scan such as an x-ray, MRI, or CT.

Tests after Diagnosis

If your baby is diagnosed with spina bifida, several specialists may examine them. These specialists include a neurologist [noo-RAHL-oh-jist], urologist [yoo-RAHL-oh-jist], orthopedic [or-thoh-PEE-dik] surgeon, and a physical therapist.

Spina bifida is a permanent condition. Most children with spina bifida need treatment including surgery. Much of the treatment for your baby will start while you are in the hospital. If you did not give birth in a hospital, you and your child will need to travel to a hospital that can provide care for an infant with spina bifida.

What Kind of Treatment Will My Baby Receive at First?

Your baby will be admitted to the hospital. The neurosurgeon will discuss with you the treatment they plan for your baby, which will include surgery to close the sac.

After surgery, the surgeon and nurses will watch for signs of increased pressure in the brain due to hydrocephalus.

What if My Baby Develops Hydrocephalus?

If your baby develops hydrocephalus, the neurosurgeon will talk with you about treatment options. Before the surgery, your baby will have an MRI brain scan, and the neurosurgeon will look at it. This is to see which surgery would be right for your baby. The options may include the following:

• Shunt placement: The neurosurgeon puts a shunt (tube) in the ventricles of the brain to remove the excess fluid.
• Third ventriculostomy [ven-TRIK-yoo-lah-stoh-mee]\Choroid plexus [KAWR-oid PLEK-suh s] coagulation: In this surgery, the surgeon makes a small opening in the bottom of the third ventricle of the brain. This lets cerebrospinal fluid exit the ventricles and at the same time decreases the amount of spinal fluid produced. This is a way to treat hydrocephalus without a shunt.

Many babies go home from the hospital before having either of the above procedures. Your baby will need follow-up appointments with the neurosurgeon, spina bifida specialist, and pediatrician.

Before your baby leaves the hospital, they will be fitted with a car bed seat. The car bed seat is on loan from the hospital and will be used for two weeks to assure that there is no pressure on your baby’s back during the ride home from the hospital and for other necessary transport. The car bed seat is usually returned to the hospital at the first clinic visit, at which time your baby will begin to use their own car seat.

Once your baby leaves the hospital, you will need to schedule periodic checkups and continued care. You should choose a provider familiar with spina bifida care.

You will also need to make an appointment with your baby’s pediatrician for well-child care including immunizations.

Babies with spina bifida should be involved in an early intervention program. These programs are supported through your local school district. The program provides therapies in your home such as physical therapy and occupational therapy. The hospital will refer you and the program will contact you when your baby is at home.

At the hospital, your baby will have a urinary catheter. This is a small tube put in the bladder to drain urine out of the body. This is to make sure your baby’s bladder empties during surgery. The tube will stay in the bladder for several days after surgery. Then your baby will have an ultrasound to see if their bladder empties.

Your baby will be placed on a three-day catheterization regimen to assure that their bladder empties completely. Before being discharged to go home, the hospital staff will teach you how to catheterize your baby. This is to familiarize you with the procedure. At some point in your baby’s life, you will probably need to perform this procedure at home.

Before your baby leaves the hospital, they will be fitted with a car bed seat. The car bed seat is on loan from the hospital and will be used for 2 weeks to ensure that there is no pressure on your baby’s back during the ride home from the hospital and for other necessary transport. The car bed seat is usually returned to the hospital at the first clinic visit, at which time your baby will begin to use their own car seat.

Once your baby leaves the hospital, you will need to schedule periodic checkups and continued care. You should choose a provider familiar with spina bifida care.

You will also need to make an appointment with your baby’s pediatrician for well-child care, including immunizations.

Babies with spina bifida should be involved in an early intervention program. These programs are supported through your local school district. The program provides therapies in your home such as physical therapy and occupational therapy. The hospital will refer you, and the program will contact you when your baby is at home.

Taking folic acid before pregnancy and during early pregnancy can reduce the risk of spina bifida.