Spina Bifida

Neural tube defects is a part of a group of birth defects called spina bifida. The embryonic structure that eventually develops into the baby’s brain and spinal cord and the tissues that enclose them is called neural tube. 

In a normal pregnancy, the neural tube forms early and then will close by the 28th day after conception but in babies with spina bifida one portion of the neural tube fails to close properly or to develop that can cause defects in the bones of the spine and the spinal cord. It has different severity forms. 

The treatment for spina bifida is surgery.

Signs and symptoms of spina bifida vary depending on its form.

Spina bifida has three forms depending on their severity. It includes: Spina bifida occulta – this is the mildest form of them all and the result of this is a gap or small separation in one or more of the bones (vertebrae) of the spine. 

Most children with this form of spina bifida have no symptoms or signs because the spinal nerves are not involved and neurological problems will not be experienced. This can sometimes be seen in newborn’s skin and the indications are a collection of fat, an abnormal tuft of hair, a small dimple or birthmark; 

Meningocele – this is the rare form of spina bifida, the protective membranes circling the spinal cord (meninges) pushes out through the opening in the vertebrae. These membranes can be removed by surgery with no damage or little damage to nerve pathways because the spinal cord develops normally.

Myelomeningocele – this is the most severe form and can also be called open spina bifida. The baby’s spinal canal remains open in the middle or lower back and because of this both the spinal cord and membranes will form a sac on the back of the baby. 

Neurological impairment is common such as:

• bladder problems,
• seizures,
• bowel problems,
• orthopedic problems like uneven hips and a curved spine (scoliosis),
• muscle weakness of the legs that can sometimes involved paralysis.

There is no certain cause of spina bifida but like any other diseases. It appears to be the result of a combination of environmental and genetic risk factors like folic acid deficiency or a family history of neural tube defects.

Your doctor will diagnose your baby’s spina bifida during pregnancy along with other team of physicians, physical therapists and surgeons. You should be prepared before visiting your doctor. Ask your doctor if you need to do anything in advance before the consultation. 

Bring a family or a close friend to support you. You can also bring a notebook and write down the vitamins and supplements that you took before and during pregnancy. Some of the questions that you can ask your doctor include: 

• Is there a spina bifida? 
• How severe is it?
• Can my baby be treated during pregnancy or after birth? 
• Is there hydrocephalus? 
• What are the steps that you are going to do right away? 
• Are there any treatments? 
• Will it cure my child? 
• Is it a long lasting effect? 
• Are there any negative side effects? 
• Are there any chances that this will happen again if I get pregnant again? 
• How can I prevent this in the future? 
• What websites do you recommend? 

Your doctor will also ask you some questions such as: 

• Have you ever had a child with birth defects or spina bifida? 
• Do you have a family history of spina bifida? 
• Are you taking any anti-seizure medications before and during pregnancy? 
• Are you aware that there are resources to support you in your community? 
• If necessary, can you travel to a facility that has specialized care? 

You will be offered prenatal screening tests to check for spina bifida or other birth defects if you are pregnant but some tests are not perfect because most mothers have normal babies even if they have positive blood tests or they might be a spina bifida even if the test is negative. 

Your doctor will perform these tests: 

Maternal serum alpha-fetoprotein (MSAFP) test – to check for myelomeningocele, your doctor will get a sample of your blood and will test it for a protein that is produced by the baby which is called alpha-fetoprotein (AFP). 

High levels of AFP indicate that the baby has a neural tube defect such as anencephaly (incomplete skull or underdeveloped brain). Your doctor will do a follow-up blood test to confirm and avoid miscalculation, and may even recommend ultrasound examination. 

Your doctor may even perform more blood tests to detect other hormones like estriol, human chronic gonadotropin (HCG) and inhibin A. Some tests are called quadruple screen (quad screen) or triple screen and these are done to screen trisomy 21 or Down syndrome; 

Ultrasound – if you have high AFP levels your doctor will recommend ultrasonography to see the reason why. In this process, your doctor can see if there is more than one baby and confirm gestational age while an advanced ultrasound can detect signs of spina bifida. This is safe for the baby and the mother.

Amntiocentesis – if the ultrasound is normal but the blood test has high levels of AFP. A sample of fluid from the amniotic sac that surrounds the baby will be removed. Ask your doctor first for the risk of loss of pregnancy.

The treatment of spina bifida depends on the severity. Some of the treatments include:

• Surgery – to put the meninges back in place and to close the opening in the vertebrae. This is usually done with Meningocele and Myelomeningocele (within 24-48 hours after birth). This can help protect the spinal cord from additional trauma and minimize risk of infection that is associated with exposed nerves. A neurosurgeon will place the exposed tissue and spinal cord inside the body of the baby and will cover them with skin and muscle.
• Pre-natal surgery – surgeons will open the mother’s uterus and repair the spinal cord of the baby that should be done before the 26th  week of pregnancy.  It is best to repair the spina bifida defects while the baby is still in the uterus (utero). This process has risks of premature delivery and to the mother as well.
• Ongoing care – some of the problems that will often remain are bladder or bowel and paralysis, exercising the legs will help prepare the babies for walking with crutches or braces.  Some have tethered spinal cord that can cause loss of muscle function in the bladder, bowel and legs;
• Cesarean birth – if your baby is in a feet-first (breech) position or if he detected a cyst, he will conduct a cesarean delivery.

Some of the preventive steps to reduce the risk of spina bifida include:

• Get folic acid – all women of childbearing age should take a daily supplement of 400 micrograms (mcg) of folic acid was recommended by experts to prevent spina bifida. You can eat foods that are fortified with 400 mcg folic acid (listed as folate in food packaging) such as pasta, rice, cereals and bread. If you are planning to have a baby, vitamin supplements as well as folic acid are necessary to prevent spina bifida. It can also reduce the risk of birth defects such as cleft palate, cleft lip and congenital heart defects.
• Have a healthy and nutritious diet including foods rich in folate such as beans, egg yolks, dark green vegetables (spinach, broccoli) and citrus juices and fruits. You’ll need extra folic acid before you become pregnant.
• For some mothers who have diabetes or are taking anti-seizure drugs, the recommended dose of folic acid is up to 4,000 mcg (4 mg) from one month prior to conception and during the first trimester of pregnancy.

There are no alternative or homeopathic remedies for spina bifida.

Certain treatments are effective to enable the child to reach the highest degree of independence and functioning.

Lifestyle modifications are necessary in order to cope with spina bifida.

You may feel frustrated, sad, afraid and angry if you found out that your newborn child has a spina bifida. You may need help in coping with this and support from loved ones. 

Your child may use canes, crutches and braces for short distances and wheelchairs for longer distances, this will help your child become independent. Kids who have this might need help from counselors and teachers in their school. 

They should be able to participate in physical activities to adapt to their emotional and social problems. Contact a support group to help you or your child cope with spina bifida.

There are several risks and complications associated with spina bifida.

Doctors have identified some risk factors for spina bifida such as:

• sex, girls are more affected than men; race, more common among white people and Hispanic,
• family history of neural tube defects, women are at great risk if they have a relative or was born with neural tube defect,
• diabetes, women who are pregnant that cannot control their blood sugar,
• folate deficiency, folate (vitamin B-9) is important to the development of the baby,
• Some medications such as anti-seizures such as valproic acid (Depakene),
• obesity,
• increased body temperature (hyperthermia) may increase the risk of spina bifida.

Consult your doctor about these risk factors or if you need a larger dose of folic acid. 

Sometimes spina bifida may lead to severe physical and mental disabilities. The severity of the condition is affected by: if skin covers the affected area, which spinal nerves come out of the affected area in the spinal cord; and the location and size of the neural tube defect. 

Some of the complications include: 

• Physical and neurological problems – complete paralysis of the leg or abnormal bladder and bowel control, you may need canes or crutches to help you walk,
• accumulation of fluid in the brain (hydrocephalus) – usually in babies born with myelomeningocele and may need ventricular shunt which is a surgically tube that will allow fluid in the brain to drain as needed in the abdomen,
• infection in the tissue surrounding the brain (meningitis) – this disease may cause brain injury and may be fatal.

Other complicationsn such as:

• learning disabilities,
• speech defects,
• reading problems or in math, may also get urinary tract infections,
• gastrointestinal problems,
• skin problems and depression.