In some people with a genetic predisposition, this lack of folic acid causes a violation of the closure of the spine. In fact, the risk of recurrence after the birth of a child with spina bifida is 4-5%, so in this case it is recommended to take high doses of folic acid 3 or 4 months before pregnancy.

Some medications for epilepsy and obesity or diabetes in pregnancy are also considered risk factors for neural tube defects.

Although there is a genetic predisposition, it is not possible to find the abnormal gene or chromosome, so most boys and girls with spina bifida do not have genetic changes . Rarely spina bifida (spina bifida) may be accompanied by genetic problems, so investigation is recommended, usually by amniocentesis.

What complications can a child with spina bifida have?

Exposure of amniotic fluid to the spinal cord causes injury throughout pregnancy, causing neurological problems , both motor and sensory, below the level of injury. In the case of defects at the level of the chest or the upper lumbar region, paralysis of the legs and the inability to walk very often occur, often tying the child to a wheelchair.

However, most defects occur in the lower back, lumbosacral region, and in these cases walking is usually possible, but assisted (crutches, cane). Sensitivity below the lesion is reduced, and in many cases there are problems with the sphincters (incontinence and retention of urine and/or feces), as well as sexual function. There may also be problems with malpositions of the feet, such as clubfoot, or knees and hips. Thus, the higher the location of the defect on the spine, the more serious the complications .

In addition, there is always a type II Arnold-Chiari malformation , which consists in the descent of the cerebellum towards the cervical spine in such a way that the normal flow of cerebrospinal fluid is obstructed. This causes an increase in fluid in the brain (hydrocephalus), which can lead to increased intracranial pressure and significant secondary damage.

Therefore, it is important to drain fluid after childbirth by placing a small tube or shunt , which improves brain pressure, but can have complications and worsen cognitive function in general.

Diagnosis

What tests are needed in my case to find out the prognosis?

The severity of the motor and sensory symptoms will depend mainly on the degree of damage to the spinal cord and the presence of fluid in the brain (hydrocephalus).

Diagnosis of requires a comprehensive examination by an experienced team of fetal medicine specialists , which will allow you to assess whether it is an isolated spina bifida (back bifida), that is, if there are any other malformations or associated genetic anomalies, as well as the level of damage to the spinal cord, that is, at the level of which vertebra the damage is located.

A number of examinations and assessments are carried out for this purpose:

• Specialized ultrasound examination for a detailed examination of the brain and spinal cord in order to assess the extent of the lesion and the presence of hydrocephalus.
• Magnetic resonance imaging
• Amniocentesis and genetic testing.
• Multidisciplinary assessment involving fetal medicine specialists, neonatologists and pediatric neurosurgeons.

Treatment

What are the treatment options?

After completion of the study, all details are discussed in detail with the parents, who always make the decision about treatment.

The traditional treatment for back bifida is to repair and close the injury within the first 24-48 hours after delivery. In addition, due to severe hydrocephalus, usually requires a shunt (see previous section for more information).

Because spinal cord injury is associated with contact with amniotic fluid, treatment during the prenatal period to prevent worsening prognosis after birth has become an option in some cases. In fact, there is evidence that in some cases (depending on the level of injury and the degree of hydrocephalus), surgical intervention on the fetus reduces the need for a shunt at birth and improves motor function.

Fetal surgery improves prognosis if performed between 19 and 26 weeks of gestation . It consists in access to the fetus and elimination of the back defect.

At the Hospital Sant Joan de Deu Barcelona , a pregnant woman is given an incision similar to a caesarean section. Another incision is made in the uterus, through which we gain access to the back of the fetus, and an experienced neurosurgeon closes the defect in layers to protect the spinal cord. In our center, we make a small incision (less than 5 centimeters) in the uterus, which significantly reduces the risk of complications. This is an operation that requires careful monitoring of the condition of the pregnant woman and is associated with risk of preterm birth .

Some medical centers in the world also offer endoscopic treatment , that is, the incision is also made on the skin of the pregnant woman, but the entrance to the uterus is done through endoscopy. After two years of working on experimental models in BCNatal, we decided to continue with the uterine incision, as allows us to correct the defect in the back much more accurately and significantly reduce the operation time at the moment.

In any case, the type of operation can always be assessed, depending on the characteristics of the case, and what is considered a faster and less invasive operation for the pregnant woman and her uterus, and of course for the fetus.

Control in case of fetal surgery

What should I know in case of fetal surgery?

Before the operation, parents can discuss in detail with pediatric specialists all the details of postpartum care, what to expect and what is the quality of life of children with this problem.

Hospitalization of the pregnant woman will typically last 4 or 5 days, and then weekly check-ups with visits and ultrasounds will be required , and maintenance of relative rest at home for the rest of the pregnancy with little physical activity, especially in the first 3 or 4 weeks after the intervention . Usually, by 37 weeks, the pregnancy ends with a caesarean section.

During pregnancy you are supported by fetal nurses not only technically but also emotionally . Also, at the hospital, we can introduce you to other families who have gone through the same experience. This experience is very positive and helps to humanize and understand the problem much more intuitively and without the difficulties that can sometimes arise when receiving only technical information from medical personnel.

Why BCNatal?

Why BCNatal - Sant Joan de Deu?

For parents who want to continue their pregnancy and have a baby with us, we offer fetal surgery team with the best survival and quality of life rates available today .

In the case of spina bifida , the operation on the fetus is carefully prepared and modeled using 3D models by a multidisciplinary team of fetal and neurosurgeons. The team from the Hospital's Department of Neurosurgery has extensive experience in repairing spina bifida and is able to perform highly accurate repairs with the best possible results.

Adding to the excellent quality of the antenatal team is the Level 3 Pediatric Center, which has medical teams made up of a large number of specialists trained in neonatal intensive care and equipped with the best and most modern technology.

In particular, children with spina bifida are very familiar and have often been examined prenatally by our specialists in neonatology, neurology, neuroradiology and of course neurosurgery. The hospital employs highly specialized and skilled medical and nursing professionals available 365 days a year, 24 hours a day, to care for these delicate patients and to meet their every need.

After discharge, the pediatric team will monitor the child during the first months and years later, in order to achieve the best possible development of the patient and solve problems in this fundamental part of his life.

What makes us special?

Spina bifida (spina bifida) - treatment, symptoms, causes, diagnosis

Spina bifida (spina bifida) is a complex congenital defect in the development of the spinal cord and spine. This is a type of open neural tube defect in which there is an abnormal development of the back of the spine, the spinal cord, the surrounding nerves, and/or the fluid-filled sac that surrounds the spinal cord.

Spina bifida (back bifida) is an incurable, life-long condition that affects the neuromuscular and musculoskeletal systems.

This defect varies by type and ranges from moderate to severe.

Children with this defect may need corsets as the body grows, and in severe cases, a wheelchair.

Treatment is mainly aimed at slowing down the deformity and maintaining motor activity.

The defect may occur along the entire length of the spine and may present with part of the spinal cord and surrounding tissues protruding outward rather than inward. Approximately 85 percent of defects occur in the lower back and 15 percent in the neck and thoracic region. Surgically, it is possible to restore the integrity of the spinal column, but nerve damage cannot be restored, and if they are pronounced, then patients have various degrees of paresis of the lower extremities. The higher the defect on the spinal column, the more severe the nerve damage and movement disorders (paresis and paralysis).

According to studies, this developmental anomaly occurs in 7 cases per 10,000 newborns. There are several types of spina bifida that have varying degrees of severity.

• Latent spina bifida (spina bifida occulta) - the most moderate form, in which there are no obvious signs of malformation and changes in the skin. In this form, at least one vertebra changes, but the nerves and spinal cord do not bulge. A child at birth may have a spot or depression in the area of ​​the anomaly. And usually, the baby will not have symptoms. With this form of anomaly (as well as with others), there may be an anomaly in the development of the spinal cord, characterized by attachment of the spinal cord to the spine to the end of the lumbar region, when normally the spinal cord ends at the level of the first lumbar vertebrae and sags freely without attachment to the spine.
• Meningocele (meningocele) moderate anomaly (and the most common), in which the spinal canal is not properly closed and the meninges (membranes that cover the spinal cord) bulge outside the bony structures of the spinal canal, but the spinal cord itself remains intact. The cystic mass is covered with skin. Most children with meningocele have normal limb function, but may have partial paresis or abnormalities of the bladder or bowel. With this anomaly, there is often underdevelopment of the spinal cord. Almost all patients with this anomaly require surgery to close the defect and free the spinal cord.
• Lipomeningocele is an anomaly in which fatty tissue is attached to the spinal cord and puts pressure on it. Children with this form of anomaly may not have severe nerve damage, but bladder and bowel function may be impaired. In these cases, surgical treatment is also often used.
• Myelomeningocele: the most severe common form and associated with spina bifida. The spinal canal is not closed, and the bulging mass consists of the meninges, pathologically altered spinal cord, and nerves. In addition, in this area the skin is also underdeveloped. In children with this form of spinal cord splitting, paresis below the defect and dysfunction of the pelvic organs are observed in whole or in part. In addition, nerve damage and other pathologies are observed.

Symptoms

The symptoms of spina bifida vary greatly, depending on the form and severity of the individual child. For example, at birth:

• In latent splitting (spina bifida occulta) there may be no obvious signs or symptoms—only a small spot, depression, or birthmark.
• With a meningocele, there will be a sac-like protrusion that will be located on the back in the spinal region.
• With myelomeningocele (myelomeningocele) there will also be a protrusion, but with altered skin, there will be a release of nerves and spinal cord.

In severe spina bifida with localization in the lumbar spine, the following symptoms may occur: paralysis of the lower extremities, dysfunction of the bladder, intestines.

• Hydrocephalus occurs in 75 percent of myelomeningocele cases and this condition requires operative endoscopic treatment in order to restore normal CSF flow or a shunt to drain excess fluid from the brain.
• Chiari anomaly (displacement of the brain into the upper cervical vertebrae) can cause pressure on the brainstem, which can manifest as impaired speech, swallowing and motor disorders in the limbs.
• Underdevelopment of the spinal cord Orthopedic problems including scoliosis, kyphosis, hip dysplasia (congenital dislocation), combined deformities, clubfoot, etc.
• Precocious puberty (especially in girls with spina bifida and hydrocephalus).
• depression and other neurotic conditions
• obesity
• dermatological problems
• developmental anomalies of the urinary tract.
• heart disease
• vision problems

Diagnosis

Diagnosis may be performed during pregnancy to evaluate the fetus for spina bifida. These include:

• Amniocentesis: A procedure in which a long, thin needle is inserted through the mother's abdomen into the amniotic sac to remove a small amount of amniotic fluid for examination. The fluid is analyzed to determine the presence or absence of an open neural tube defect. Although the analysis is very reliable, it does not allow diagnosing small or closed defects.
• Prenatal ultrasound: this technique, being absolutely harmless, allows you to non-invasively assess the condition and visualize the internal organs, vessels, tissues of the fetus. Sometimes it is possible to diagnose not only spina bifida, but also other anomalies.
• Blood tests: It is recommended that blood tests be performed between 15 and 20 weeks of gestation for all women who have not previously had a child with an open neural tube defect and who do not have a family history of the condition. A blood test for alpha-fetoprotein and other biochemical parameters can determine how high the risk of developing spinal anomalies is.
• At birth, severe cases of spina bifida are evident by the presence of a fluid-filled sac bulging on the back of the newborn. Visual indicators of mild forms (spina occulta) may be a hairy patch on the skin or a depression along the spine. Unusual weakness or lack of coordination in the lower extremities also suggests spina bifida. In children and adults, this anomaly is often diagnosed during routine studies or, if necessary, to differentiate neurological symptoms using instrumental research methods (MRI, CT, radiography).

Causes

During pregnancy, the human brain and spinal column begin to form as a flat sheet of cells that folds into a tube called the neural tube. If all or part of the neural tube fails to close, then the open area is called an open neural tube defect. An open neural tube is open in 80 percent of cases, and is covered by bone or skin in 20 percent of cases. The cause of spina bifida (spina bifida and other defects) remains unknown, but is most likely the result of a combination of genetic, nutritional, and environmental factors, such as:

• maternal dietary folic acid (vitamin B) deficiency during pregnancy (sufficient folic acid intake during pregnancy may reduce the risk of this anomaly).
• maternal uncontrolled diabetes
• Certain medicines (antibiotics, anticonvulsants).
• The genetic factor, as a rule, matters only in 10 percent of cases.
• Mother's age
• What kind of births on the account (firstborns are more at risk).
• Socioeconomic status (children born in lower socioeconomic families are at higher risk).
• ethnicity
• obesity or excessive consumption of alcohol by a pregnant woman
• When exposed to pregnant hyperthermia in the early stages (sauna, jacuzzi).

Treatment

Spina bifida can be treated immediately after birth. If this defect is diagnosed prenatally, then a caesarean section is recommended in order to reduce possible damage to the spinal cord during the passage of the birth canal. Newborns with meningocele or myelomeningocele are recommended to have surgery within 24 hours of birth. With such an operation, the bone defect is closed and it is possible to preserve the function of the intact part of the spinal cord.

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