Spina bifida is a condition that occurs as a result of a congenital defect in spinal development. Due to the incomplete closure of the spine, the protection of the spinal cord and nerve roots cannot be ensured. This condition can lead to various health problems and may cause individuals to face lifelong challenges. Since spina bifida is a congenital defect, it is a condition that develops in the womb during pregnancy. Early diagnosis and appropriate treatment play a critical role in minimizing the negative effects of spina bifida. Spina bifida can occur in different forms, and different symptoms may be observed in each case. While mild symptoms may be seen in some cases, it can lead to more serious health problems in others. Therefore, it is important to have knowledge about spina bifida and to take the necessary steps for early diagnosis.
What Causes Spina Bifida?
Spina bifida occurs due to the influence of a complex set of factors that are not yet fully understood. Factors such as genetic predisposition, nutritional deficiencies, environmental influences, and maternal health may increase the risk of spina bifida. Especially folic acid deficiency during pregnancy significantly increases the risk of spina bifida. Folic acid is a critical nutrient for the development of the spine and nervous system. Adequate intake of folic acid before and during pregnancy is highly effective in reducing the risk of spina bifida. In addition, the use of certain medications, unhealthy lifestyle habits, infections, and other medical conditions may also contribute to the development of spina bifida. Therefore, adopting a healthy lifestyle before and during pregnancy plays an important role in reducing the risk of spina bifida.
Spina Bifida During Pregnancy: Symptoms and Risk Factors
Spina bifida is usually detected during ultrasound examinations performed during pregnancy. However, some signs may also appear before pregnancy or in the early stages of pregnancy. Symptoms of spina bifida that may be observed during pregnancy include:
- Abnormally large abdominal area
- Changes in the amount of amniotic fluid
- Swelling or protrusion on the spine
Risk factors include the following:
- Insufficient folic acid intake
- Certain health problems such as diabetes, epilepsy, or obesity
- A family history of spina bifida
- The mother being over 35 years of age
- Use of certain medications (for example, antiepileptic drugs)
Regular medical check-ups before and during pregnancy are very important for the early detection of spina bifida risk and for taking appropriate precautions.
Types of Spina Bifida
Spina bifida can occur in different forms, and each requires its own specific symptoms and treatment approaches. The main types of spina bifida are:
- Spina Bifida Occulta: It is the mildest form. Although the spine does not close completely, it usually does not cause any symptoms and often goes unnoticed.
- Meningomyelocele (Open Spina Bifida): It is the most severe type of spina bifida, occurring as a result of the spinal cord and nerve roots protruding outward. It may lead to paralysis, urinary and bowel control problems, pain, and other serious complications.
- Meningocele: The dural sac protrudes through the spine, but the spinal cord and nerve roots are not affected. Milder symptoms are observed.
- Sacral Lipoma: Fat tissue accumulation is seen in the lower part of the spine. It often does not cause any symptoms, but in some cases it may lead to nervous system problems.
Due to this diversity, separate evaluation and an appropriate treatment approach are required for each case.
Diagnosis of Spina Bifida and How It Is Detected in the Womb
The diagnosis of spina bifida is usually made during ultrasound examinations performed during pregnancy. Ultrasound is the most effective diagnostic method to observe spinal development and possible defects. A detailed ultrasound examination performed between the 18th and 22nd weeks of pregnancy provides the most suitable time frame for determining the presence and type of spina bifida. In some cases, signs of spina bifida may also be observed at earlier stages. In addition to ultrasound examination, blood tests may also help diagnose spina bifida. For example, elevated levels of alpha-fetoprotein in the mother’s blood increase the suspicion of spina bifida. Early diagnosis is critically important for planning appropriate treatment and support for both the mother and the baby. In this way, complications that may arise in the postnatal period can be minimized.
Spina Bifida Treatment: Surgery and Other Intervention Methods
Spina bifida treatment is individualized according to the patient’s condition. While conservative approaches may be sufficient in mild cases, surgical interventions may be required in more serious situations. Conservative Treatment Methods:
- Physiotherapy and rehabilitation
- Orthoses and walking aids
- Applications that provide bladder and bowel control
- Neurological follow-up and medication therapy
Surgical Treatment Methods:
- Closure of the spinal cord and nerve roots during birth
- Shunt placement in cases of hydrocephalus (fluid accumulation)
- Orthopedic interventions to correct deformities
Surgeries are usually performed immediately after birth or within the first few months. Surgical treatment is very important to stop the progression of spina bifida and minimize complications. However, spina bifida treatment is a lifelong process. Patients require regular follow-ups, rehabilitation, and support services.
Living with Spina Bifida: Things to Consider in Daily Life
Spina bifida can lead to many different health problems and may cause lifelong challenges. However, with appropriate support and care, individuals with spina bifida can live independently and maintain a good quality of life. The main points to consider in daily life include:
- Regular medical check-ups and rehabilitation programs
- Management of bladder and bowel problems
- Management of mobility limitations and orthopedic problems
- Skin care and reducing the risk of pressure sores
- Minimizing the risk of infections
- Management of learning difficulties and cognitive problems
- Psychological support and social adaptation
In addition, individuals with spina bifida may also have needs and require support in areas such as education, employment, independent living, and social participation.
Recent Scientific Developments and Research on Spina Bifida
Significant scientific developments have been made in recent years regarding spina bifida. Researchers are working to better understand the underlying causes of spina bifida and to develop new treatment methods. For example, surgical interventions performed in the womb may be effective in stopping the progression of spina bifida and reducing complications. In addition, genetic and molecular studies contribute to a better understanding of the factors that determine spina bifida risk. Furthermore, studies aimed at improving rehabilitation methods, assistive technologies, and independent living skills are ongoing. All these developments aim to improve the quality of life of individuals with spina bifida and provide better support. Spina bifida is a congenital and complex condition. However, with early diagnosis, appropriate treatment, and comprehensive support, individuals with spina bifida can live independently and maintain a good quality of life. Folic acid intake before and during pregnancy, healthy lifestyle habits, and regular medical check-ups are highly effective in reducing the risk of spina bifida. In the postnatal period, surgical interventions, rehabilitation, and daily precautions play a critical role in improving patients’ quality of life. Gaining knowledge about spina bifida, joining support groups, and working with specialist healthcare professionals will make living with spina bifida easier. Thus, individuals with spina bifida and their families can embark on a challenging but hopeful journey. Spina bifida is a congenital and lifelong condition. However, with early diagnosis, appropriate treatment, and comprehensive support, it is possible for individuals with spina bifida to live independently and maintain a good quality of life. Fertijin can help you obtain more information and support regarding spina bifida. Contact us now and get answers to all your questions about spina bifida.