Understanding Spina Bifida

Spina bifida is a congenital disorder characterised by the incomplete development of the spine. It is a type of neural tube defect in which the part of the neural tube does not develop or close properly, resulting in defects in the vertebrae (bones of the spine) and spinal cord. The child may be born with a part of the spinal cord exposed on the back through an opening in the spine

Types of Spina Bifida

Spina bifida occulta

Spina bifida occulta, often called hidden spina bifida, is the mildest and most common type of spina bifida. Most of the time, the gap in the spine is small, and there may be no disturbance to the spinal function. Many individuals may remain unaware of the presence of spina bifida occulta unless it is incidentally detected during an X-ray conducted for an unrelated purpose.

Meningocele

Meningocele is a severe type of spina bifida. The membrane that covers the spinal cord, known as the meninges, protrudes through the opening of the spine. It results in a sac of spinal fluid in the back. In most instances, the spinal cord and nerves are typically unaffected or only mildly impacted. The sac is usually enclosed by skin and may necessitate surgical intervention.

Myelomeningocele

Myelomeningocele is the most severe form of spina bifida. The spinal cord does not form properly, and a portion of the spinal cord and nerves protrude through an opening in the spine in a sac. In some cases, the sacs are covered by skin. However, in other cases, nerves and tissues may be exposed. The opening can be surgically closed either while the baby is in utero or shortly after birth.

Causes of Spina Bifida

The exact causes of spina bifida are not fully known. Some factors that increase the risk of a baby developing spina bifida include insufficient intake of folic acid (vitamin B9) before conception and during pregnancy. Women should take 400 mcg of folic acid daily while pregnant.

Having a family history of spina bifida and taking medications such as valproic acid and carbamazepine during pregnancy also increase the risk the risk of a baby developing spina bifida.

Diagnosis of Spina Bifida

Tests performed during pregnancy include:

• Blood test: During the 16 to 18 weeks of pregnancy (second trimester), a maternal serum alpha-fetoprotein (MSAFP) screen is done by obtaining a sample of the mother's blood. This test measures the levels of alpha-fetoprotein (AFP), a protein produced naturally by the foetus and placenta.
• Ultrasound: An imaging technique that uses high-frequency sound waves to create a visual representation of the developing baby inside the womb. This method is highly precise in identifying certain birth defects, including spina bifida, during pregnancy.
• Amniocentesis: a sample of the amniotic fluid surrounding the foetus is extracted and analysed for protein levels that could indicate the presence of a neural tube defect or genetic disorder.

Individuals who opt to proceed with the pregnancy should expect more frequent antenatal appointments compared to others who are pregnant.

Tests performed after birth include:

Closed neural tube defects are frequently identified at birth through the observation of abnormal fatty masses, tufts or clumps of hair, or small dimples or birthmarks on the skin at the location of the spinal malformation.

Spina bifida occulta is usually discovered incidentally when X-rays are conducted for other reasons.

Treatment for Spina Bifida

Treatment depends on the type of spina bifida.

Prenatal surgery (foetal surgery)

Foetal surgery is performed in the second trimester of pregnancy that involves fixing the opening in the spine before the baby is born. Foetal surgery may lead to reduced nerve and muscle issues after birth, but it carries potential risks for both the mother and the baby. Additionally, there is a possibility that further surgery may be required for the baby after birth.

After birth

Surgery soon after birth is performed to close the spinal opening and address hydrocephalus. The primary goal of early surgery is to reduce the risk of infection and further damage to the exposed spinal cord and nerve.

Other treatment methods include services aimed at enhancing daily functioning and promoting independence, such as physiotherapy and occupational therapy, the usage of assistive devices like wheelchairs or walking aids, and treatments addressing issues related to bowel and urinary functions.

Prevention of Spina Bifida

Expectant mothers need to prioritise a balanced and nutritious diet, including sufficient folic acid supplementation, to prevent spina bifida in their unborn child.

Additionally, early prenatal care and consultations with your doctor play a crucial role in addressing and managing factors that could contribute to spina bifida during pregnancy.

Make an Appointment at Gleneagles Hospitals

Get in touch with us to find out more about our Paediatrics Services at your nearest Gleneagles Hospital if you have any questions about spina bifida.