Neural Tube Defects

A group of congenital anomalies resulting from incomplete closure of the fetal brain and spinal cord in the first weeks of pregnancy; the most well-known is spina bifida.

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Congenital Anomalies

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1Overview

Quick and clear information for patients

What is this Condition?

Neural tube defects are congenital anomalies in which the structure that will form the baby's brain and spinal cord (neural tube) fails to close completely in the very early stages of pregnancy, often before the mother even knows she is pregnant. The most common type is spina bifida, in which the posterior part of the spine does not close; there are also severe forms where the brain does not develop and forms where brain tissue protrudes outside the skull. The most severe form of spina bifida is when the spinal cord and its membranes remain exposed outside the back in an open sac. Folic acid (vitamin B9) supplementation before and during pregnancy can prevent a significant portion of these defects. Diagnosis is usually made during pregnancy through blood testing and detailed ultrasound, and after birth through physical examination and imaging.

Symptoms

An open, red, and moist sac or swelling along the midline of the back (seen at birth in severe cases)

Weakness in the legs, loss of sensation, or limited movement (varies depending on the level of the defect in the spine)

Problems with urinary and bowel control (dysfunction of bladder and bowel function)

Rapid head growth, restlessness, vomiting and other signs of fluid accumulation in the brain (hydrocephalus)

Skeletal problems such as foot and hip deformities, spinal curvature (scoliosis)

In occult forms, skin findings such as hair tuft, birthmark, small dimple, or dimple on the back; leg pain or gait disturbance may develop later

Diagnosis Methods

A protein test (AFP) in maternal blood and a detailed ultrasound performed at 16-20 weeks are the most important diagnostic methods; if necessary, diagnosis is confirmed by amniotic fluid sampling (amniocentesis) and fetal MRI. After birth, physical examination, ultrasound of the baby's head, and spinal MRI assess the location of the defect and associated problems.

Treatment Methods

Treatment is planned according to the type and severity of the defect. In open forms, the basic approach is surgical repair performed within the first few days after birth; in some suitable cases, repair can also be performed in utero. If fluid accumulation develops in the brain, a system (shunt) that drains it is placed. Subsequently, the child is followed up long-term by neurosurgery, urology, orthopedics, and physical therapy teams. The goal is to preserve existing functions and improve quality of life.

Early postnatal surgical repair: The exposed nerve tissue and membranes are closed to prevent infection and cerebrospinal fluid leakage.

In utero (prenatal) surgical repair: A treatment option applied in selected suitable cases at experienced centers that may positively affect some outcomes; carries additional risks for the mother.

Shunt surgery for fluid accumulation in the brain: A thin tube system is placed to divert accumulated fluid to another part of the body.

Long-term support and rehabilitation: The child's development is supported through bladder-bowel management, treatment of foot and spinal problems, physical therapy, and special education.

Treatment Path

Related Treatments

The procedures and interventions most commonly explored with this condition.

4 links

Craniosynostosis Surgeries

Craniosynostosis Surgeries procedure

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Fronto-Orbital Advancement

Fronto-Orbital Advancement procedure

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Calvarial Reshaping

Calvarial Reshaping procedure

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Oksipitoservikal posterior dekompresyon + duraplasti

Oksipitoservikal posterior dekompresyon + duraplasti procedure

Open treatment detail

Editorial Notes

References

Greenberg MS. Handbook of Neurosurgery. 10th ed. Thieme; 2023.
Winn HR, ed. Youmans and Winn Neurological Surgery. 6th ed. Elsevier; 2011.
Badhiwala JH, et al. Myelomeningocele. In: Di Rocco C, Pang D, Rutka JT, eds. Textbook of Pediatric Neurosurgery. Springer; 2020.

This content is for informational purposes and based on academic sources; consult your physician for diagnosis and treatment.

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Neural Tube Defects

Congenital Anomalies

1Overview

What is this Condition?

Symptoms

Diagnosis Methods

Treatment Methods

Related Treatments

Craniosynostosis Surgeries

Fronto-Orbital Advancement

Calvarial Reshaping

Oksipitoservikal posterior dekompresyon + duraplasti

Related Blog Posts

Spina Bifida (Myelomeningocele): Prevention and Modern Treatment

References

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Related Treatments

Craniosynostosis Surgeries

Fronto-Orbital Advancement

Calvarial Reshaping

Oksipitoservikal posterior dekompresyon + duraplasti

Related Blog Posts

Spina Bifida (Myelomeningocele): Prevention and Modern Treatment

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