Spina bifida treatment in Turkey: surgery, fetal repair and costs

What is spina bifida and what causes it?

Spina bifida emerges early. Very early, in fact, within the first month of pregnancy, often before a woman even recognizes she is pregnant. The neural tube, which eventually becomes the brain and spinal cord, fails to seal properly between weeks 3 and 4 of development, leaving portions of the spine exposed or malformed as a result.

It is one of the more common serious birth defects, and its frequency varies between regions and populations.

The underlying mechanisms combine genetic predisposition with environmental triggers, though scientists continue to unravel the precise interactions. Among modifiable risk factors, inadequate folic acid intake stands out as the most preventable cause. This B vitamin plays a foundational role in neural tube closure. Women planning a pregnancy are generally advised to take a folic acid supplement before conception and in early pregnancy, at a dose set by their doctor, a simple measure that reduces the risk.

What are the different types of spina bifida?

The spectrum of spina bifida encompasses distinct presentations, each carrying different implications for long-term function and medical requirements:

Risk factors

Neural tube development depends on multiple variables. Researchers have identified several modifiable and non-modifiable factors that heighten susceptibility, though the complete picture remains incompletely understood.

• Genetic and ethnic influences: Family members with neural tube defects carry elevated risk. Hispanic and Caucasian ancestry correlates with higher incidence rates in epidemiological studies.
• Nutritional status: Folate insufficiency during the periconception window represents the single most preventable cause. This micronutrient directs neural tissue formation in the earliest embryonic stages.
• Medication exposure: Anticonvulsants, particularly valproate used for seizure control, substantially increase risk when administered during the first trimester.
• Maternal metabolic and physiological factors: Poorly controlled gestational diabetes, maternal obesity (BMI > 30),and elevated core body temperature in early pregnancy have all been associated with increased occurrence.

Risk reduction hinges on adequate folate supplementation before conception and routine prenatal medical oversight.

What are the symptoms of spina bifida and how is it diagnosed?

Presentation varies significantly based on lesion type and anatomical extent. Detection may occur before delivery, at birth, or later during childhood development.

Prenatal detection

Most open myelomeningoceles are detected during standard ultrasound imaging performed between 18 and 20 weeks gestation.

Characteristic sonographic findings include:

• The "banana sign", abnormal cerebellum curvature
• The "lemon sign", inward buckling of frontal bone margins

These indirect markers reflect Chiari II malformation, a frequent accompaniment of open myelomeningocele.

Complementary diagnostic modalities:

• Maternal serum alpha-fetoprotein (AFP): Characteristically elevated when neural tissue is exposed.
• High-resolution fetal MRI: Supplies detailed anatomical assessment of the spinal lesion and intracranial structures.

Signs visible at delivery or after birth

Open lesions are usually visible at birth:

• Protruding sac on the lower back, the defining hallmark of open myelomeningocele
• Weakness below the lesion level, ranging from mild reduction in strength to total loss of motor function
• Loss of bladder and bowel control, common in myelomeningocele due to nerve involvement
• Hydrocephalus: cerebrospinal fluid accumulation, which affects most children with myelomeningocele
• Chiari II malformation, brainstem displacement, frequent in severe cases

Occulta: typically silent

Most individuals remain entirely asymptomatic. The condition is frequently found incidentally during spinal imaging performed for unrelated reasons. A minority develop tethered cord, a condition where neural tissue becomes abnormally adhered, leading to symptoms that appear during later childhood: back pain, leg weakness, or changes in bladder function.

Spina Bifida treatment options in Turkey

Spina bifida management extends beyond a single operation. It is a coordinated care pathway from birth to adulthood, adjusted as the child grows. Partner centers bring together fetal surgeons, pediatric neurosurgeons, pediatric urologists, orthopedic specialists and rehabilitation physicians.

Fetal surgical repair (in utero closure)

Prenatal surgery closes the myelomeningocele before birth, between about 19 and 26 weeks of gestation. In the MOMS trial, the need for a shunt at 12 months fell from 82% to 40%, motor outcomes were better at 30 months and hindbrain herniation was less frequent. Fetal surgery needs specialized infrastructure and carries risks for the mother and the fetus, including preterm labor.

Neonatal closure (postnatal repair)

When fetal surgery is not available or not suitable, the defect is closed within the first days after birth, usually within 24 to 72 hours. The operation closes the open sac, protects the exposed nervous tissue and lowers the risk of meningitis.

Shunt placement for excess brain fluid

Ventriculoperitoneal shunting is needed when hydrocephalus develops, which affects most children with myelomeningocele. The device drains cerebrospinal fluid from the brain ventricles into the abdominal cavity. In selected cases, endoscopic third ventriculostomy can avoid an implanted shunt.

Release of tethered spinal cord

In growing children, the spinal cord can become tethered at the repair site. A tethered cord can cause progressive weakness, pain or loss of function. Pediatric neurosurgeons perform a release procedure to prevent or limit further decline.

Bladder and bowel management

Neurogenic bladder needs lifelong follow-up, as poor emptying can damage the kidneys. Clean intermittent catheterization, started early, is the basic approach. Reconstructive urological procedures may be considered in adolescence.

Orthopedic and physical rehabilitation

Children with myelomeningocele benefit from physiotherapy, orthotic supports such as braces, and surgery for structural deformities such as hip displacement, spinal curvature or clubfoot. Rehabilitation started in infancy supports functional independence.

Each child's pathway differs. Send your reports through the request form so that a pediatric neurosurgeon can review the file and propose a plan.