Spina bifida – open spine

Depending on the degree of opening, it can lead to later disabilities, including muscle paralysis and problems emptying the bladder and bowel. Today, spina bifida itself can usually be diagnosed at an early stage, often during pregnancy. In specialized clinics, the affected baby can even be operated on before birth in many cases. Later complications such as bladder and bowel dysfunction are to be expected, especially with an open spine, and require long-term medical care.

What is spina bifida?

Spina bifida (also spelled spina bifida) occurs during the third to fourth week of pregnancy. During this early period, two folds of tissue (neural folds) close in the embryo and grow together to form a preliminary stage of the spinal canal, the so-called neural tube. The spinal column with the spinal cord and the brain develop from it. If the neural tube does not close completely, the spinal canal formed by the vertebrae remains open – there is then a gap at the back of the affected vertebral arches. This has led to the colloquial term “open back”. Literally translated, however, spina bifida means “split spine” or “split vertebrae” for short. The opening usually extends over three to six vertebral segments.

Spina bifida: girls affected slightly more frequently than boys

For every 10,000 newborns in Switzerland, around one to three are affected by spina bifida; some Europe-wide estimates assume significantly more cases (up to two affected per 1,000 newborns). The consequences of the disease can vary. Some babies have hardly any symptoms, others suffer from more severe impairments that can even lead to disabilities and brain damage. Girls fall ill slightly more often than boys.

The severity of the consequences of spina bifida depends on which form of the disease the affected person suffers from. There are two main forms: Spina bifida occulta and spina bifida aperta.

Spina bifida occulta

This is the mildest and most common form of spina bifida. It often causes no symptoms and is not even recognized, even after many years – hence the name spina bifida occulta (“occult” means “hidden”). Although the open vertebrae do not completely enclose the spinal cord, it remains somewhat protected inside them. And is often covered by a layer of skin that prevents the vertebral openings from being seen.

Spina bifida aperta

Spina bifida aperta (also known as spina bifida cystica) is the open form of spina bifida that is visible from the outside. It affects not only the vertebrae, which protect the spinal cord, but also the overlying skin. It is very stretched and very thin at the affected area, so that a visible protrusion forms.

The spinal canal contains nerve tracts that are surrounded by cerebrospinal fluid (CSF) and protected by meninges. In the case of spina bifida aperta, these meninges can shift outwards from the spinal canal and form a sac-like protrusion. Doctors also make a difference:

• If the protrusion only contains cerebrospinal fluid and spinal meninges, but the spinal cord itself is intact, it is referred to as a meningocele.
• If parts of the spinal cord and nerves also protrude through the vertebral fissure, this is a myelomeningocele (also known as a meningomyelocele ). This common form of spina bifida aperta is usually associated with more severe impairments.
• If the spinal cord is completely exposed and not covered by skin, doctors speak of myeloschisis.

Causes: How does spina bifida develop?

It is not clear why the neural tube does not close properly at the beginning of a pregnancy when the embryo is still tiny. However, there are a few indications of factors for an increased risk of disease. These include:

• Heredity: As open backs occur more frequently than average in some families, it is assumed that genetic causes play a role in the development of spina bifida. If one child already has the disease, the risk of spina bifida in the second newborn increases by around 40 percent.
• Folic acid deficiency: Folic acid is a vitamin that is important for cell division and blood formation; it is also known as vitamin B9. A lack of folic acid or a disturbance in folic acid metabolism in the first weeks of pregnancy increases the likelihood of developing spina bifida.
• Maternal illnesses: gestational diabetes, alcohol abuse, obesity (severe overweight) and fever in the first days or weeks of pregnancy. These are also risk factors for the unborn child that lead to an increased probability of spina bifida.
• Medication: If a pregnant woman takes certain medication for epilepsy – for example the active ingredient valproic acid – this can also have a negative impact on the early development of the embryo and increase the risk of spina bifida.

Symptoms: How does spina bifida manifest itself?

Prenatal neural tube defects can have very different consequences. In many cases, spina bifida occulta goes completely unnoticed, while children with spina bifida aperta are conspicuous at birth and sometimes suffer severe disabilities later in life.

The more severely an open back damages the brain or spinal cord, the more serious the health impairments. The spinal cord is the “data line” between the brain and the body. If it is no longer intact, signals are disrupted and various areas of the organism no longer function properly.

Typical consequences of spina bifida aperta can be

• Learning disorders
• Difficulty swallowing
• Joint stiffness, muscle weakness, paralysis
• Problems emptying the bladder and bowel
• Reduced sensitivity of the skin to pain and touch
• Back problems, including humpback (kyphosis) or curvature of the spine (scoliosis)
• Hydrocephalus

In most children with spina bifida, the lower part of the back is affected. The main areas affected in these cases are the legs, feet, bladder and bowel. The higher up the back a vertebral fissure is located, the more bodily functions are affected. The failures often lead to a lack of physical activity – as a result, the bones of the skeletal system can become more susceptible to fractures and osteoporosis (bone loss) can develop.

Diagnosis: How do you recognize spina bifida?

If you are pregnant, you want to know as early as possible whether your unborn child is healthy and how it is developing. Although spina bifida already develops during the fourth week of pregnancy, a reliable diagnosis is not yet possible at this time. Only from the eleventh week onwards can the first indications of the disease be detected with the help of blood tests – but they are only a suspicion and do not yet provide definitive certainty. You can expect a reliable diagnosis of spina bifida from the 18th to 22nd week of your pregnancy if your doctor carries out an ultrasound examination (sonography).

The examination of the mother’s amniotic fluid is also considered reliable for the determination of an open spina bifida. Amniocentesis is usually performed between the 15th and 20th week of pregnancy. However, amniocentesis cannot predict how severe a diagnosed spina bifida disorder will be.

Blood tests using the mother’s blood are supposed to indicate spina bifida at an early stage, but they always give inaccurate results: Sometimes malformations are overlooked, but it also happens time and again that a malformation is indicated without actually existing.

Therapy: How can spina bifida be treated?

Since an open spine already develops in the first weeks of embryonic development, spina bifida cannot be prevented even by early diagnosis. However, this does not mean that the parents of an affected baby are helplessly at the mercy of the disease: There are a number of therapeutic options that can enable them and their child to enjoy a good quality of life.

Spina bifida: surgery before or after birth?

An operation in the first few days after birth is intended to prevent germs from penetrating exposed spinal cord tissue and damaging nerves. To surgically close the open back, a piece of skin is usually removed from another part of the body.

In some cases, the open area of the back can even be operated on before birth. One of the specialized clinics in Europe that offer this so-called fetal surgery in the womb is the University Hospital Zurich. We now have more than 15 years of experience with these operations, which are performed gently through small openings in the mother’s abdomen. Around a third of the children live without impairments after the operation, while others often have fewer disabilities and therefore a better quality of life.

Prenatal surgery: better mobility and fewer problems

An operation that closes open vertebrae before birth (prenatal) can stop further damage to the spinal cord. However, if it is exposed during the last weeks of pregnancy, the nerve tissue is at risk: it can be attacked by friction against the uterine wall, by contact with germs in the amniotic fluid or by digestive enzymes, among other things. Prenatal interventions therefore often lead to better mobility of the child after birth. Bladder and bowel problems are also often less pronounced than after an operation that is performed postnatally (after birth). However, if spina bifida is treated surgically in the womb, the risk of miscarriage increases compared to postnatal surgery. And one thing applies to both types of surgery, whether before or after birth: damage to the nerve tissue that has already occurred can unfortunately no longer be reversed.

Spina bifida: promoting independence with individual support

Doctors from various specialties and other therapists work together to ensure that children affected by spina bifida can live as independently as possible and have sufficient freedom of movement. For example, bladder paralysis can be treated with a catheter; it ensures that no residual urine remains in the bladder and causes a urinary tract infection. Orthopaedic aids can improve the ability to walk and stand. Physiotherapy provides pain relief and mobility. And sometimes surgery on the feet or joints may also be necessary to correct deformities.

Despite some of the complaints and limitations that an open back entails, the quality of life of those affected does not necessarily have to suffer with good care and treatment. This is shown by a study for which children and adolescents suffering from spina bifida were surveyed: 64 percent rated their quality of life as “good”, 30 percent even as “very good”; six percent rated it as “average” and none as “poor”.

Prophylaxis: Can spina bifida be prevented?

As the exact causes of spina bifida are not known, there are no precautionary measures that can be taken to prevent its development in every case. But if you pay attention to the risk factors for spina bifida mentioned above, you will at least reduce the likelihood that your baby will suffer from an open back.

An optimal folic acid level in the blood is particularly important for pregnant women – it has a major influence on the smooth cell division of the growing embryo. As the unborn child’s cells divide very quickly and a lot of folic acid is needed for this, the future mother should ideally already have a sufficient supply of folic acid several weeks before the start of the pregnancy.

Be sure to discuss this with your doctor in good time and clarify when, how often and in what form you should take folic acid. This is an important preventive measure against spina bifida: scientific studies assume that a timely and sufficient supply of folic acid can very probably prevent an open spine.