mild spina bifida and The spina bifida Definition

The spina bifida
Definition

The spina bifida is part of a group of congenital defects called neural tube defects. The neural tube is the embryonic structure that eventually develops in the baby's brain and spinal cord and the tissues they enclose.

Normally, the neural tube forms at the beginning of pregnancy and closes on the 28th day after conception. In babies with spina bifida, a portion of the neural tube does not develop or close properly, causing defects in the spinal cord and bones of the spine.

The spina bifida occurs in various forms of gravity. When a treatment for spina bifida is needed, it is done through surgery, although this treatment does not always completely solve the problem.
Symptoms

The spina bifida occurs in three forms, each varying in severity:

Hidden spina bifida
This softer form results in a small separation gap, or in one or more of the bones (vertebrae) of the spine. Because spinal nerves are normally involved, most children with this spina bifida form show no signs or symptoms and do not have neurological problems. Visible signs of hidden spina bifida can sometimes be seen on the skin of the newborn above the spinal defect, including:

    An abnormal tuft of hair
    A collection of fat
    A small dimple or a birthmark
    Skin discoloration

Many people who have hidden spina bifida do not even know it unless the condition is discovered during an x-ray or other imaging examination done for unrelated reasons.

Meningocele
In this rare form, the protective membranes around the spinal cord (meninges) push out through the opening in the vertebrae. Because the spinal cord develops normally, these membranes can be removed by surgery, with little or no damage to nerve pathways.

Myelomeningocele
Also known as spina bifida, myelomeningocele is the most severe form - and the way people usually mean when they use the term "spina bifida."

In myelomeningocele, the baby's vertebral canal remains open along several vertebrae in the lower back or middle. Due to this opening, both the membranes and the spinal cord protrude at birth, forming a sac in the baby's back. In some cases, the skin covers the bag. Usually, however, the tissues and nerves are exposed, making the baby prone to life-threatening infections.
Spina bifida. A family history of neural tube defects.
Spina bifida. A family history of neural tube defects.

Neurological impairment is common, including:

    Muscle weakness, sometimes involving paralysis
    Intestinal and bladder problems
    Seizures, especially if the child needs a shunt
    Orthopedic problems - such as deformed feet, uneven hips and a curved spine (scoliosis)

Causes

Doctors are not sure what causes spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folic acid deficiency.
Risk factors

Although doctors and researchers are not sure why spina bifida occurs, they have identified some risk factors:

Race. Spina bifida is more common among whites and Hispanics.
    A family history of neural tube defects. Couples who have had a child with a neural tube defect have a slightly greater chance of having another child with the same defect. This risk increases if two previous children have been affected by the disease. In addition, a woman who was born with a neural tube defect, or who has a close relative with one, has a greater chance of giving birth to a child with spina bifida. However, most babies with spina bifida are the offspring of parents with no known family history of the disease.
    Folate deficiency. Folate (vitamin B-9) is important for the healthy development of a child. Folate is the natural form of vitamin B-9. The synthetic form, found in supplements and fortified foods, is called folic acid. Folic acid deficiency increases the risk of spina bifida and other neural tube defects.
    Some medications. Anti-seizure medications, such as valproic acid (Depakene, Stavzor), appear to cause neural tube defects when taken during pregnancy, perhaps because they interfere with the body's ability to use folic acid and folic acid.
    Diabetes. Women with diabetes who do not control blood sugar also have a higher risk of having a baby with spina bifida.
    Obesity. Pre-pregnancy obesity is associated with an increased risk of congenital neural tube defects, including spina bifida.
    Increased body temperature. Some evidence suggests that increasing body temperature (hyperthermia) in the first weeks of pregnancy may increase the risk of spina bifida. Raising your body temperature due to fever or the use of saunas and whirlpools has been associated with increased risk of spina bifida.

If you have known risk factors for spina bifida, talk to your doctor to determine if you need a higher dose or prescription dose of folic acid before a pregnancy even begins. If you take medicines, tell your doctor. Some medications can be adjusted to reduce the potential risk of spina bifida if plans are made in advance.
See too
Complications

The spina bifida may not cause only small symptoms or physical disabilities. It often leads to severe physical and mental disabilities.

Factors Affecting Gravity
The severity of the disease is affected by:

    The size and location of the defect in the neural tube
    If skin covers the affected area
    What spinal nerves leave the affected area of ​​the spinal cord

Interval of complications
Complications may include:

    Physical and neurological problems. This may include a lack of normal bowel and bladder control and partial or complete paralysis of the legs. Children and adults with this form of spina bifida may need crutches or wheelchairs, keys to help them get around, depending on the size of the opening in the spine and the care received after birth.
    Fluid accumulation in the brain (hydrocephalus). Babies born with myelomeningocele also usually have accumulation of fluid in the brain, a condition known as hydrocephalus. Most babies with myelomeningocele will need a ventricular shunt - a tube placed surgically, which allows the fluid in the brain to drain as needed to the abdomen. This tube can be placed shortly after birth, during surgery to close the sac in the lower back, or later as the fluid accumulates.
    Infection in the tissues that surround the brain (meningitis). Some babies with myelomeningocele may develop meningitis, an infection of the tissues that surround the brain, which can cause brain damage and can be fatal.
    Other complications. Additional problems can arise as children with spina bifida grow older. Children with myelomeningocele may develop learning difficulties, including difficulty paying attention, problems with language and reading comprehension, math, and learning difficulty. Children with spina bifida may also have allergy to latex, skin problems, urinary tract infections, gastrointestinal disorders and depression.


Preparing for your appointment

Your doctor will probably suspect or diagnose your baby's condition during pregnancy. In addition to the health professional you selected to take care of you during your pregnancy, you will also likely consult with a multidisciplinary team of physicians, surgeons and physiotherapists at a center specialized in spina bifida treatment. Children with myelomeningocele require continuous medical attention throughout their lives to monitor their condition and treat complications.

Because appointments can be brief, and often there is a lot of ground to cover, it is a good idea to be well prepared. Here is some information to help you prepare for your appointment, and what to expect from your health care providers if there is suspicion that the baby may have spina bifida.

What can you do

    Be aware of any pre-consultation instructions. At the time of making the appointment, be sure to ask if there is anything you need to do in advance, such as drinking extra water before an ultrasound.
    Make a list of all the medications, vitamins, and supplements you took before and during your pregnancy.
    Ask a family member or friend to go with you, if possible. Sometimes it can be difficult to remember all the information provided to you during a consultation. Someone accompanying you may remember something you missed or forgot.
    Write down the questions to ask your doctor.

Preparing questions ahead of time will help you make the most of your time with your health care providers. List your questions from the most important to the least important in case the time runs out. For spina bifida, some basic questions to ask include:

    Is the spina bifida present and how severe is it?
    Is there evidence of water in the brain (hydrocephalus)?
    Can My Baby Be Treated During Pregnancy?
    What will be done for my baby immediately after birth?
    Does the treatment cure my child?
    Will there be lasting effects?
    Who can I contact to learn more about community resources that may be able to help my child?
    What are the chances of this happening again in future pregnancies?
    How can I prevent this from happening again in the future?
    Are there any brochures or other printed material that I can take home with me? Which sites do you recommend visiting?

In addition to the questions you have asked to ask your doctor, do not hesitate to ask questions during your appointment.

What to expect from your doctor
Your doctor will probably ask you a series of questions. Being ready to answer them may reserve time to go over all the points you want to spend more time on. Your doctor may ask:

    Have you ever had a child with spina bifida or other birth defects?
    Is there a family history of spina bifida?
    Are you on any anti-seizure medications, or do you take them early in your pregnancy?
    Are you aware of the resources of your community that are available to support you and your child dealing with spina bifida?
    If necessary, are you able to travel to a facility that offers expert care?

Tests and diagnosis

If you are pregnant, you will be offered prenatal screening tests to check for spina bifida and other birth defects. The tests are not perfect. Most mothers who have positive blood tests have normal babies. In addition, even if the results are negative, there is still a small chance that the spina bifida is present. Talk to your doctor about prenatal testing, your risks, and how you can handle the results.

The blood tests
Your doctor will probably check for spina bifida by first performing the following:

Maternal serum alpha-fetoprotein (MSAFP) test. A common test used to check myelomeningocele is the maternal serum alpha-fetoprotein (MSAFP) test. To perform this test, the doctor takes a blood sample and sends it to a laboratory, where it is tested for alpha-fetoprotein (AFP) - a protein that is produced by the baby. It is normal for a small amount of AFP to cross the placenta and enter the mother's bloodstream, but abnormally high levels of AFP suggest that the baby has a neural tube defect, most commonly spina bifida or anencephaly, a condition characterized by a brain underdeveloped and an incomplete skull.

    Some spina bifida cases do not produce a high level of AFP. On the other hand, when a high level of AFP is found, a defect in the neural tube is present only a small percentage of the time. Different levels of AFP can be caused by other factors - including a miscalculation of fetal age or multiple babies - so your doctor can ask for a follow-up blood test for confirmation. If the results are still high, you will need a more thorough evaluation, including an ultrasound examination.
    Other blood tests. Your doctor can perform the MSAFP test with two or three other blood tests, which can detect other hormones, such as human chorionic gonadotrophin (HCG), inhibin A, and estriol. Depending on the number of trials, the combination is called a triple or quad screen (quad screen). These tests are commonly done with the MSAFP test, but their goal is to screen trisomy 21 (Down syndrome), not neural tube defects.

Ultrasound
Many obstetricians rely on ultrasound for spina bifida screening. If blood tests indicate high levels of AFP, your doctor will suggest an ultrasound examination to help determine why. The most common ultrasound exams skip the high-frequency sound waves off tissues on your body to form black-and-white images on a video monitor.

The information these images provide can help establish if there is more than one baby and can help confirm gestational age, two factors that can affect AFP levels. An advanced ultrasound can also detect signs of spina bifida, such as an open spine or specific features of your baby's brain, which indicate the spina bifida.
Preparing for your appointment. Increased body temperature.
Preparing for your appointment. Increased body temperature.

In experienced hands, ultrasound today is quite effective in detecting spina bifida and assessing its severity. Ultrasound is safe for mother and baby.

Amniocentesis
If a blood test shows high levels of AFP in the blood but the ultrasound is normal, the doctor may offer amniocentesis. During amniocentesis, the doctor uses a needle to withdraw a sample of fluid from the amniotic sac that surrounds the baby. The analysis indicates that the level of AFP present in the amniotic fluid.

A small amount of AFP is usually found in the amniotic fluid. However, when an open neural tube defect is present, the amniotic fluid contains a high amount of AFP because the skin around the baby's spine has gone and AFP leaks into the amniotic sac. A second assay may be done with the same sample to reliably confirm that a defect in the neural tube is present.

Discuss the risks of this test, including a small risk of pregnancy loss, with your doctor.
See too

    Prenatal Tests: Quick Guide to Common Tests
    Genetic testing

Treatments and drugs

Spina bifida treatment depends on the severity of the condition. Hidden spina bifida often requires no treatment at all, but other types of spina bifida do.


Surgery
Meningocele involves surgery to place the meninges back in place and close the opening in the vertebrae. Myelomingocele also requires surgery, usually within 24 to 48 hours after birth. Performing early surgery can help minimize the risk of infection that is associated with the exposed nerves and may also help protect the spinal cord from further trauma. During the procedure, a neurosurgeon places the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. Sometimes a shunt to control hydrocephalus in the baby's brain is placed during the operation in the spinal cord.

Prenatal surgery
In this procedure - which occurs before the 26th week of pregnancy - surgeons expose the uterus of a surgically pregnant mother, open the uterus and repair the baby's spinal cord.

Proponents of fetal surgery believe that nerve function in spina bifida babies seems to worsen rapidly after birth, so it may be best to repair spina bifida defects while you are still pregnant and the baby is still in the womb ( in the womb). So far, children who have received fetal surgery need fewer deviations, and are less likely to need crutches or other standing devices. But the operation poses risks to the mother and increases the risk of preterm birth.

Discuss with your doctor if this procedure might be right for you.

Continuous care
The treatment does not end with the initial surgery, however. In infants with myelomeningocele, irreparable nerve damage has already occurred, and continued care from a multidisciplinary team of surgeons, physicians and therapists is usually required. Paralysis and bladder and bowel problems often remain and treatment for these conditions usually begins soon after birth. Babies with myelomeningocele may also start exercises that will prepare the legs to walk with the device or crutches when they are older.

In addition, babies with myelomeningocele may require more operations for a variety of complications. Many have a spinal cord - a condition in which the spinal cord is attached to the scar of the closure and is less able to grow properly in length as the child grows. This progressive "tethering" can cause loss of muscle function to the legs, bowel or bladder. Surgery can limit the degree of disability and can also restore some function.

Cesarean delivery
Cesarean delivery may also be part of the treatment for spina bifida. Many babies with myelomeningocele tend to be in a foot-first position (breech). If your baby is in this position, or if your doctor has detected a large cyst, cesarean delivery may be a safer way to deliver your baby.
Confrontation and support

The news that your newborn child has a condition, such as spina bifida can naturally cause you as a parent to feel sadness, anger, frustration, fear and sadness. There is good reason to expect, however, because most people with spina bifida live active, productive and full lives - especially with the encouragement and support of loved ones.

Even with severe spina bifida, most children can walk for at least short distances, usually with the aid of appliances, walking sticks or crutches, although they may require wheelchairs for long distances. Using these devices can help the child compensate for their condition and gain more independence.

Many children with spina bifida have normal intelligence, but they may need early educational intervention from learning disabilities. They may also need extra help from teachers and counselors to adapt to the school. A physical disability such as spina bifida can also cause emotional and social problems. Children with spina bifida need encouragement to participate in activities with their peers and for an independent life, within their physical limitations and capabilities. It may be helpful to remember that these children have never known what is accepted as normal function and often adapt to their condition in a remarkable way.



If your child has spina bifida, you can benefit from finding a support group from other parents who are dealing with the disease. Talking with others who understand the challenges - and rewards - of living with spina bifida can be helpful.
Prevention

Folic acid, taken as a supplement at least one month prior to conception and during the first trimester of pregnancy, reduces the risk of spina bifida and other neural tube defects.

Get Folic Acid First
It is crucial to have enough folic acid in your system, the first few weeks of pregnancy to prevent spina bifida. Because many women do not discover they are pregnant at this time, experts recommend that all women of childbearing age take a daily supplement of 400 micrograms (mcg) of folic acid. Various foods, including bread, pasta, rice and breakfast cereals, are enriched with 400 mcg of folic acid per serving. Folic acid can be listed on food packaging, such as folic acid, which is the natural form of folic acid found in food.

Planning Pregnancy
If you are actively trying to get pregnant, most experts believe that pregnancy supplementation of at least 400 mcg of folic acid per day is the best approach for women planning pregnancy. Your body does not absorb folate as easily as it absorbs synthetic folic acid, and most people do not get the recommended amount of folate by diet alone, so vitamin supplements are needed to prevent spina bifida. And, it is possible that folic acid will also help reduce the risk of other birth defects, including cleft lip, cleft palate and some congenital heart defects.

It is also a good idea to eat a healthy diet, including foods rich in folic acid or enriched with folic acid. This vitamin is naturally present in many foods, including:

    Beans
    Fruits and citrus juices
    The egg yolk
    Dark green vegetables such as broccoli and spinach

When higher doses are required
If you have spina bifida or if you have given birth to a child with spina bifida, you will need folic acid before you become pregnant. If you are taking anti-seizure medications or you have diabetes, you may also benefit from a higher dose of this vitamin B. In these cases, the recommended dose of folic acid may be up to 4000 mcg (4 mg) from one month before conception and during the first months of pregnancy. However, check with your doctor before taking additional folic acid supplements