Spinal Closure Defects and Open Spine Conditions

The neural tube defects represent one of the most common groups of developmental disorders that occur during the development of the fetal nervous system. The neural tube normally forms in the early stages of pregnancy, and its closure is essential for proper brain and spinal cord formation. If this closure is incomplete or does not occur at all, various abnormalities may develop, which can have serious consequences for the life of the unborn child.

The closure of the neural tube occurs during the fourth week of pregnancy, and if the fetus is exposed to harmful effects during this period, it can disrupt the process. In addition to genetic factors, external influences such as medication use, fever, or obesity also play a role in the development of neural tube defects. The role of folic acid deficiency in the emergence of these defects has been known for decades, which is why folic acid supplementation is recommended for pregnant women to reduce risks.

The manifestations of neural tube defects depend on the degree and location of the closure. The most severe form, anencephaly, is characterized by a significant absence of the skull and brain, while spina bifida can present with varying degrees of severity, which can also lead to serious health problems.

Types of Open Spina Bifida

Spina bifida, or open spina bifida, encompasses two main forms: meningocele and myelomeningocele. In the case of meningocele, the spinal canal is open at the back, and the sac filled with cerebrospinal fluid protrudes. This type of defect typically occurs in the thoracic-lumbar region, and although it is covered by skin or a thin membrane, it usually does not cause severe neurological problems. Early surgical intervention often provides a solution in many cases.

In contrast, myelomeningocele, or cystic spina bifida, represents a more severe condition. Here, not only is the covering around the spinal cord protruding, but the spinal cord itself is also involved. This openness significantly increases the risk of infections and often leads to severe neurological abnormalities. The lower limbs are often paralyzed or weak, and bowel and bladder control issues may also occur. These defects are frequently associated with complex brain development disorders, such as Arnold-Chiari malformation.

Another type of spina bifida, spina bifida occulta, refers to the openness of the bony covered part of the spinal canal. It is characterized by the fact that in most cases, there are no neurological abnormalities, which is why it is often discovered incidentally, for example, during an X-ray. This type is the most common form of neural tube defects, but since it is often asymptomatic, the exact prevalence rate is not known.

Treatment of Neural Tube Defects

The diagnosis of neural tube defects is now possible even in the early stages of pregnancy. Screening tests, particularly the AFP measurement performed at 12 weeks, can provide useful information about the possible presence of defects. Treatment options depend on the severity of the abnormalities. Less severe defects, which only represent bony developmental issues, often do not require intervention, while more severe forms necessitate complex medical care.

The treatment process may include orthopedic and neurosurgical surgery after birth, as well as rehabilitation. Advanced surgical techniques have made it possible in some cases to perform intrauterine interventions. Children born with covered spina bifida or meningocele have a good chance of living a full life, while more severe forms can have a more significant impact on quality of life and life expectancy.

The worst prognosis is observed in babies born with lower limb paralysis and urinary problems. Often, these cases are also associated with mental developmental disorders, which can further exacerbate the child’s living conditions.