Identifying Spina Bifida Symptoms

Spina bifida is a prevalent congenital condition in the U.S., affecting approximately 1 in every 2,858 newborns. It occurs when there are abnormalities in the development of the brain, spinal cord, or their protective coverings, known as meninges, leading to neural tube defects and potential complications. Although the exact cause remains unknown, scientists suggest multiple factors may contribute to its development. Here are various methods to recognize spina bifida.

Look for discoloration or birthmarks on the spinal area. These color changes might indicate incomplete neural tube closure and could also be accompanied by spinal malformations.

• Note that many birthmarks are harmless, so consult your doctor for evaluation if you notice any marks along the spine that concern you.

Check for fatty lumps, protrusions, or dimples along the spine. These may indicate bone, fat, or membrane malformations covering the spine, often associated with closed neural tube defects.

Inspect for small patches of hair along the spine. In cases where the spine fails to close properly, tufts of hair may be present at the site. This symptom can sometimes go undetected until after birth due to limitations in ultrasound imaging angles.

Consider potential severe symptoms. Some instances of spina bifida may present severe symptoms, including lower body deformities and muscle weakness. These symptoms may encompass:

• Physical and cognitive impairments, although individuals without hydrocephalus typically have normal intelligence.
• Paralysis.
• Urinary and bowel control issues.
• Occasional occurrences of blindness and/or deafness.

Look for a visible sac of fluid. This sac may protrude from the spinal column area, manifesting as either meningocele (without spinal cord connection) or meningomyelocele (with spinal cord connection) forms of spina bifida. Sometimes, a thin layer of skin may cover the protruding sac, accompanied by the following symptoms:

• Possible partial or complete paralysis.
• Potential bladder and bowel complications.

Watch for difficulties with eating or breathing. Chiari II malformation, characterized by a portion of the brain extending into the neck or spinal canal, may lead to various issues, including impairment of upper arm function.

Watch out for an unusually large head. Hydrocephalus, a condition characterized by fluid buildup around the brain, can exert harmful pressure on surrounding tissues. The most common symptom in babies is an enlarged head, but they may also exhibit seizures, drowsiness, irritability, sunken eyes, and nausea or vomiting.

• Babies may develop meningitis, an infection of the brain's surrounding tissues, which can lead to brain damage and endanger the baby's life.
• Learning difficulties such as a short attention span, language problems, and reading and math difficulties may also occur.

Undergo a spinal column x-ray, MRI, or CT scan. These tests are typically performed to diagnose spina bifida occulta (SBO), the mildest form of spina bifida, but they can also confirm other types. X-rays can detect abnormalities such as a small gap or irregularity in the spine, or less commonly, a tethered spinal cord, thickening, fatty lumps, a split spine, or skin connection. Magnetic resonance imaging (MRI) or computed tomography (CT) scans can also reveal these issues. While most people with SBO don't experience problems, associated symptoms may include:

• Back or leg pain, numbness, or weakness
• Deformities in the legs, feet, or back
• Changes in bladder or bowel function

Take the maternal serum alpha-fetoprotein (MSAFP) test. Typically performed during the second trimester (not detectable in the first trimester), around 16-18 weeks, the MSAFP test measures alpha-fetoprotein (AFP) levels. Elevated AFP levels may indicate an open neural tube defect.

• Note that the MSAFP test is not 100% accurate, and further testing may be necessary.

Undergo an ultrasound examination. If your AFP levels are elevated, your doctor may recommend an ultrasound. Ultrasound imaging can provide visuals of the unborn baby's spine and spinal cord, facilitating the diagnosis of spina bifida.

Opt for an amniocentesis procedure. During this procedure, the doctor retrieves amniotic fluid surrounding the fetus for testing. Elevated levels of AFP in the fluid can indicate the presence of spina bifida. However, it's important to note that this test may not provide detailed information about the extent of the condition's impact on the baby.

Request an internal scan to detect spina bifida. Postnatal scans, conducted after the baby's birth, are often the only way to detect milder forms of spina bifida. X-rays, MRIs, or CT scans may be performed in cases where spina bifida symptoms are not readily apparent.

• Meningocele surgery may be necessary for the two most severe forms of spina bifida: meningocele and myelomeningocele. If the fluid sac is not covered by skin within two days after birth, this procedure is performed to prevent infection.
• Individuals with spina bifida may require crutches, braces, or wheelchairs for mobility.
• Avoid smoking or consuming alcohol during pregnancy.

• Hispanic infants face an elevated risk of developing spina bifida.
• Some symptoms may not appear until children reach a later age. These potential symptoms include latex allergies, sleep disorders, depression, and future gastrointestinal issues.