When is Spina Bifida Diagnosed?

Diagnosis

Pregnant women are routinely offered prenatal screening tests to check for disorders like spina bifida. The results from these prenatal tests can sometimes be incorrect—a positive test for spina bifida doesn’t always mean the child has spina bifida; the same is true for a negative test—there is always a slight possibility that spina bifida is present. Prenatal tests are not always 100% accurate. Discussing the results with your doctor can further clarify the results of these tests.

The most accurate way to diagnose spina bifida is by ultrasound testing. However, maternal blood tests screening for birth defects include:

  • Maternal serum alpha-fetoprotein test (MSAFP). A blood sample is taken from the pregnant mother and analyzed for the presence of alpha-fetoprotein (AFP). Small amounts of this protein can pass from the placenta to the mother’s bloodstream. However, in higher levels, this could be an indication of a neural tube defect like spina bifida.
  • Additional blood tests. If the doctor believes a discrepancy exists with the initial blood test results, further testing will be suggested; sometimes, a miscalculation of the fetus’s age or multiple births could affect the results. If the follow-up results still indicate a possible problem, an ultrasound will be used to further investigate the results. Additional blood tests are also done to detect conditions such as Down syndrome.
  • Ultrasound. The most accurate way to detect spina bifida in a fetus is fetal ultrasound. Ultrasound imaging is performed during the first trimester of pregnancy (11-14 weeks) and then again during the second trimester (18-22 weeks). An accurate detection of spina bifida can usually be made during the second trimester.
  • Amniocentesis. If spina bifida is confirmed from the ultrasound, your doctor may request an amniocentesis. This procedure uses a needle to extract a sample of the amniotic fluid which is examined for genetic diseases. A slight risk of losing the pregnancy could occur with amniocentesis.

How is Spina Bifida Treated?

Treatment

Treatment for spina bifida depends on the type and severity of the condition. Spina bifida differs according to the size and location of the spinal defect and whether the spine is open or closed.

Surgical options

Nerve damage is common in babies born with spina bifida unless immediate treatment is administered at birth. There are two main options: fetal surgery during pregnancy or immediate surgery on the infant at birth.

  • Surgery before birth –Prenatal surgery has proven to be a viable option for some patients. Prenatal surgery is performed before the 26th week of pregnancy. Surgeons will either surgically repair the baby’s spinal cord through the mother’s uterus or use a fetoscope inserted into the uterus, a less invasive surgery.

    Children who receive fetal surgery for their spina bifida have less mobility complications and less dependency on mobility aids such as crutches or walkers. Prenatal surgery has been shown to reduce the incidence of hydrocephalus.
  • Surgery after birth - Babies born with myelomeningocele require surgery within the first 72 hours of their lives; the spinal cord and exposed nerves need to be protected from trauma and infection. The surgery involves a pediatric neurosurgeon placing the spinal cord and exposed nerves and tissues inside the infant’s body—covering them with muscle and skin for protection.
Dietary suggestions

Children with spina bifida are susceptible to nutritional challenges; poor eating habits and lack of mobility add to these problems. Constipation and frequent urinary tract infections are also common for children with spina bifida. Some suggestions to reduce weight gain, anemia, and osteoporosis in children with spina bifida include:

  • Eating fruits and vegetables daily
  • Eating lean protein like fish, chicken, beans, and eggs
  • Avoid fast food and sugary foods
  • Avoid caffeinated drinks, too much fruit juice, and drink 1% milk
  • Choose low fat cheeses and yogurt
Medications

Children affected with spina bifida will require treatment throughout their lives. Common medications prescribed to treat the symptoms of spina bifida may include:

  • Medications to treat bladder and bowel dysfunction caused by neurologic damage
  • Seizure medications
  • Antibiotics to treat kidney and bladder infections.
  • Analgesics for pain relief
  • Antidepressants to treat depression and anxiety
Additional treatments

Some or all of these may be necessary to improve the quality of life for people with spina bifida.

  • Bladder & bowel medications. Bowel and bladder dysfunction are common for people with spina bifida because of nerve damage sustained.
  • Mobility aids. Crutches, walkers, leg braces, wheelchairs, or other types of apparatus help promote independence through movement.
  • Surgery is sometimes necessary to alleviate hydrocephalus (the buildup of fluid within the brain).

FAQs

FAQs

Spina bifida develops within the first few weeks of pregnancy, sometimes before a woman even knows she is pregnant.

Spina bifida is not considered a genetic disorder; most cases of spina bifida appear randomly. Infrequently, some indication of spina bifida appears to run in families.

The prognosis for children with spina bifida has greatly increased due to advances in medicine and medical technology. Children rarely die due to complications from spina bifida. Research reports that 90% of patients with spina bifida will live past 30 years. Research and development continue to improve, estimating that 75% of people born with advanced types of spina bifida can live for many years past early adulthood with continued medical support.

Depending on the severity and location of the disorder, a person with spina bifida could experience complications such as:

  • Hydrocephalus – a buildup of fluid around the brain
  • Chiari II Malformation – the brain is positioned abnormally in the upper spinal canal, causing upper body weakness and trouble breathing and swallowing.
  • Tethered spinal cord – the spinal cord becomes attached to the spinal canal, prohibiting free movement. This can cause nerve damage, scoliosis, bladder and bowel problems and other issues.
  • Paralysis and mobility problems
  • Lack of bladder and bowel control
  • Possible learning disabilities
  • Increased allergic reaction to latex
Get Care

Trust NewYork-Presbyterian for Spina Bifida Treatment

NewYork-Presbyterian has the ways and means to treat spina bifida, retaining the highest level of pediatric neurosurgeons and pediatric orthopedic surgeons at NewYork-Presbyterian Morgan Stanley Children’s Hospital and NewYork-Presbyterian Komansky Children’s Hospital.

Know the treatments and symptoms for spina bifida at NewYork-Presbyterian so your child can live a healthier, happier life. Call for an appointment and consultation.