Diagnosis

Spina bifida is usually diagnosed during pregnancy with prenatal testing, such as:

• Amniocentesis – This test takes a small amount of the fluid in the womb through a thin needle. The fluid is examined for protein levels.
• A blood test called AFP screening – This test is done during the 16th to 18th week of pregnancy to identify a specific protein, which is higher in women carrying a fetus with spina bifida.
• High-resolution ultrasound imaging of the fetus – This test uses sound waves to create images that can show signs of spina bifida.

If a baby may have spina bifida, we customize their care through our Phoenix Children’s Center for Fetal and Neonatal Care. Our Fetal Imaging team makes sure the proper imaging tests are done so you and your providers can determine if a prenatal procedure would be helpful. These imaging tests include a high-resolution ultrasound and magnetic resonance imaging (MRI). MRIs use powerful magnet and radio waves to make detailed images of your baby’s spine and nearby areas.

Your team at Phoenix Children’s will get to know you during your pregnancy and will be excited to meet your baby when that day arrives.

Babies may be diagnosed after they are born when they have an obvious defect on their back, or when they begin to experience symptoms such as muscle weakness in their feet, hips or legs. Mild cases of spina bifida may not be diagnosed until later in life. However, if your baby has a dark or hairy patch of skin or a dimple on their back, it may indicate the mildest form of spina bifida. You should tell your doctor if you notice these signs.

Along with MRI imaging, the following tests also can give doctors information they need to diagnose spina bifida after a baby is born:

• Computed tomography (CT scan) – These tests use a computer and special X-ray technology to create pictures of your baby’s spine and nearby areas.
• X-ray – This test uses low levels of radiation to create images of your baby’s spine and nearby areas.

We will show you the details of your child’s imaging tests and explain how the problem may affect your child’s body and brain. We can also recommend a primary care pediatrician who is experienced in caring for children with spina bifida.

Babies with spina bifida are usually treated in the Neonatal Intensive Care Unit (NICU). After discharge from the NICU, your family will receive support from both the navigators at the Center for Fetal and Neonatal Care and the Newborn Early Screening Team (NEST) at Phoenix Children’s.

Navigators are dedicated nurse coordinators who offer a concierge-style resource. They coordinate a smooth transition from inpatient to outpatient care. They also connect families with other services and programs that can help, including NEST. NEST specializes in developmental care and makes sure you have the resources your baby needs from infancy through early childhood.