Spina bifida

Diagnosis

Prenatal screening tests are available to detect spina bifida and other birth defects during pregnancy. A positive blood test result typically means the baby does not have spina bifida, but there is still a small chance of the condition being present even if the test is negative.

• Blood tests: While maternal blood tests can screen for spina bifida, the condition is typically diagnosed using ultrasound.
  • Maternal serum alpha-fetoprotein (MSAFP) test: A test called the maternal serum alpha-fetoprotein (MSAFP) test can be done to screen for spina bifida during pregnancy. This test involves taking a blood sample from the mother and testing it for a protein called alpha-fetoprotein (AFP), which is produced by the baby. Normally, a small amount of AFP crosses the placenta and enters the mother’s bloodstream. However, abnormally high levels of AFP in the mother’s blood may suggest that the baby has a neural tube defect, such as spina bifida. It is important to note, however, that not all cases of spina bifida will show high levels of AFP on this test. (1)
  • AFP levels test: To confirm high levels of AFP, a test may be conducted. However, other factors such as miscalculation in fetal age or the presence of multiple babies can cause varying levels of AFP. In such cases, the doctor may require a follow-up blood test for verification. If the results of the follow-up test also indicate high levels of AFP, further evaluation, including an ultrasound exam, will be necessary.
  • Other blood tests: The MSAFP test may be combined with two or three other blood tests. These tests are sometimes administered in combination with the MSAFP test, although their goal is to screen for other diseases, including as trisomy 21 (Down syndrome), rather than neural tube abnormalities.
• Ultrasound: Fetal ultrasound is the most precise method for detecting spina bifida in an unborn baby prior to delivery. This procedure can be carried out during the first trimester (between weeks 11 and 14) or the second trimester (between weeks 18 and 22) of pregnancy. The second-trimester ultrasound is particularly effective in identifying spina bifida and excluding other congenital abnormalities. Using advanced ultrasound techniques, it is possible to identify spina bifida-related indications such as an exposed spinal cord or specific abnormalities in the baby’s brain. Additionally, ultrasound can be used by a trained specialist to evaluate the severity of spina bifida.
• Amniocentesis: If the spina bifida is confirmed by prenatal ultrasound, amniocentesis is recommended. Amniocentesis involves using a needle to take a sample of fluid from the amniotic sac surrounding the unborn child. It is important to discuss the risks of amniocentesis, including a small chance of miscarriage. Although spina bifida is rarely associated with hereditary illnesses, this test may be necessary to rule them out.

Treatment

The appropriate treatment for spina bifida is determined by the severity of the condition. Mild forms of spina bifida may be addressed through therapy, while spina bifida occulta usually does not require any treatment. Unfortunately, for more severe types of spina bifida that result in nerve damage, treatment options are available but they cannot provide a cure.

Prenatal treatment

Untreated spina bifida in infants can lead to a decline in nerve function after birth. To prevent this, fetal surgery or prenatal surgery can be performed before the 26th week of pregnancy. The surgical procedure involves surgically exposing the uterus of the expectant mother, opening it, and repairing the baby’s spinal cord. In some cases, the surgery can be performed with a fetoscope, a specialized surgical tool that is inserted into the uterus to minimize invasiveness.

According to research, children diagnosed with spina bifida who undergo fetal surgery may experience reduced disability and have a lower likelihood of requiring crutches or other walking aids. Additionally, this surgical procedure may decrease the risk of hydrocephalus. It is advisable to consult with your doctor to determine whether this procedure is appropriate for your child. The potential benefits and risks, such as possible premature delivery and other complications, should be discussed in detail.

A comprehensive evaluation is essential to ascertain the feasibility of fetal surgery. This type of specialized surgery should only be performed at a healthcare facility that has a team of experienced fetal surgery experts who take a multispecialty approach and have access to neonatal intensive care. Typically, the team includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist, and neonatologist.

Cesarean delivery

Infants with myelomeningocele are frequently positioned in a breech position. In the case of a large cyst or sac being detected, a cesarean delivery might be considered a safer option for delivery.

Surgical after birth

Surgery is necessary within 72 hours of birth to close the opening in a baby’s back caused by myelomeningocele. Early surgical intervention can help reduce the likelihood of infection, which is a common risk associated with exposed nerves. Additionally, it may help safeguard the spinal cord from further injury. The surgical procedure involves a neurosurgeon carefully repositioning the spinal cord and exposed tissue inside the baby’s body, which is then covered with muscle and skin. Simultaneously, the neurosurgeon may also insert a shunt in the baby’s brain to manage hydrocephalus.

Treatment complication

A multidisciplinary team of surgeons and therapists is required to provide continuous care for infants with myelomeningocele, as permanent nerve damage may have occurred in these infants. As a result of various complications, babies with myelomeningocele could require additional surgery. Treatment for complications, such as weak legs, bladder and bowel issues, or hydrocephalus, frequently starts soon after birth. The following treatments are possible for spina bifida, depending on its severity and any complications, treatment options may include:

• Walking and mobility treatment:  To prepare for walking with braces or crutches in the future, some babies may start exercising. Some children may need the use of a wheelchair or walker. With regular physical therapy and the use of mobility aids, a child can develop independence and self-sufficiency. Children who use wheelchairs can also become highly proficient in their operation and can achieve independence as well.
• Bowel and bladder treatment: Regular assessments and management plans for the bowel and bladder help lower the risk of disease and organ damage. X-rays, renal scans, ultrasounds, blood tests, and examinations of bladder function are among the evaluations. These assessments will happen more frequently in a child’s first few years of life but less frequently as they get older. Oral medicines, suppositories, enemas, surgery, or a combination of these methods may be used for bowel management, and medications, inserting catheters to drain the bladder, surgery, or a combination of procedures may all be used in bladder management.
• Hydrocephalus treatment: A surgically implanted tube that permits brain fluid to drain into the abdomen is required for the majority of infants with myelomeningocele. This tube may be inserted immediately following birth, during the procedure to close the sac on the lower back, or at a later time if fluid builds up.

For individuals who are suitable candidates, endoscopic third ventriculostomy is a less invasive technique that may be considered. However, it is important to carefully select candidates and ensure they meet a number of requirements. The surgeon creates a hole in the base of the ventricles or between them during the procedure so that cerebrospinal fluid can drain from the brain, while viewing the inside of the brain with a small video camera.

• Other complications management: Spina bifida can present several complications, including orthopedic issues, tethered spinal cord, gastrointestinal problems, and skin conditions, among others. However, the use of specialized equipment such as bath chairs, commode chairs, and standing frames can help individuals with spina bifida perform daily activities. Fortunately, most complications associated with this condition can be managed or treated, leading to a better quality of life for those affected.

Ongoing care

Children with spina bifida require vigilant monitoring and continuous medical attention. In addition to overseeing their growth, administering vaccinations, and addressing general health concerns, their primary care physicians must also coordinate their medical care.

Moreover, children with spina bifida often necessitate treatment and ongoing care from a team of healthcare professionals, such as physical medicine and rehabilitation specialists, neurologists, neurosurgeons, urologists, orthopedists, physical therapists, occupational therapists, special education teachers, social workers, and dietitians.

The involvement of parents and other caregivers is crucial in this team effort. They play an essential role in learning how to manage their child’s condition and providing emotional and social support to their child.