Spina Bifida – Diagnosis and Treatment

Diagnosis

Checking the Blood for Signs

Healthcare providers use blood tests to screen for neural tube defects like spina bifida before a baby is born. One common test is the Maternal Serum Alpha-Fetoprotein (MSAFP) check.

In this test, the provider takes a blood sample from the pregnant woman to look at the level of alpha-fetoprotein (AFP), a protein made by the developing baby.

High amounts of AFP in the mother’s blood may signal that the baby has a neural tube problem such as open spina bifida (myelomeningocele or meningocele). However, not all cases of spina bifida cause high AFP levels.

Other reasons—like misjudging how far along the pregnancy is or having twins—can also affect AFP amounts. If AFP is higher than expected, the provider may order more testing or repeat blood work.

Doctors sometimes combine the MSAFP with other blood tests. These extra checks look for other birth defects and chromosomal syndromes such as Down syndrome.

These tests do not provide a full diagnosis, but they help identify babies who need more careful testing.

Test Name	Purpose	What It Checks
MSAFP	Screens for abnormal protein levels	Neural tube defects
Triple/Quad Screen	Combines AFP with other markers	Other birth defects

Looking at the Baby With Ultrasound

Ultrasound is the most trusted way to spot spina bifida in a fetus. Providers often use this scan in the second trimester, usually between weeks 18 and 22.

The ultrasound gives a picture of the baby’s spine and brain, making it easier to find signs of open spina bifida or other defects.

An advanced ultrasound can show details such as a gap in the spine or fluid buildup in the baby’s head, which suggests myelomeningocele or meningocele.

It also helps determine how serious the condition is and whether any linked issues, like hydrocephalus, are present.

Types of Spina Bifida Found by Ultrasound

• Myelomeningocele: The most severe form, often seen as an open area on the back.
• Meningocele: A less severe open defect with a fluid sac.
• Occulta: Usually not visible on ultrasound, as it is hidden and has mild symptoms.

If the image is not clear, providers may order a fetal MRI for more detail about the brain and spine.

Examining Amniotic Fluid

If blood tests and ultrasound suggest there could be a neural tube defect, doctors may suggest amniocentesis for more answers. In this test, a provider uses a thin needle to draw a small amount of fluid from around the baby.

The fluid is checked for high AFP or other clues that point to spina bifida or other genetic conditions.

Amniocentesis helps confirm if the baby has a neural tube defect and can also help find other birth defects or genetic problems.

While this test can give useful information, there is a slight chance it could lead to losing the pregnancy. Families should talk with their provider about the risks and benefits before deciding on amniocentesis.

Key Points About Amniocentesis:

• Gives more information after ultrasound or blood test findings.
• Can detect causes or related genetic issues.
• Carries a small risk, so informed choice is important.

Treatment

Surgery Before Delivery

Surgeons can sometimes treat spina bifida before a baby is born. Prenatal repair, which takes place before the 26th week of pregnancy, is an option for some cases.

Surgeons open the mother’s abdomen and uterus to fix the baby’s exposed spinal cord. After the repair, they close the uterus and abdomen.

Less invasive options, like fetoscopic surgery, may also be available. In this method, the surgical team inserts small tools and a camera through tiny openings, reducing risk for the parent.

Early surgery can reduce the risk of lifelong disability and may also lower the chances of the baby developing hydrocephalus (a buildup of fluid in the brain). There may also be less need for support devices like crutches later on.

The process carries risks, such as preterm labor or surgical complications, so it requires a highly experienced team.

Not every person or pregnancy is suited for this surgery, and careful medical assessment at a facility with a specialized team is essential.

Key members of the care team:

• Fetal surgeon
• Pediatric neurosurgeon
• Neonatologist
• Maternal-fetal medicine specialist
• Fetal cardiologist

This group monitors the baby and parent’s health both before and after the procedure.

Delivery by Planned Surgery

Babies with more severe spina bifida, especially those with myelomeningocele, are frequently found in the breech position. When babies are feet-first or have a large sac, providers often consider cesarean delivery safer than natural birth.

Reasons for planned cesarean delivery:

• Reduces injury to the baby’s exposed spinal cord.
• Limits the risk of tearing the spinal sac during birth.
• Protects the baby’s nervous system from further injury.

Doctors decide if a surgical birth is the best choice after checking the baby’s health and position inside the womb.

Surgical Care After Birth

Neurosurgeons commonly perform surgery soon after birth for babies born with open spina bifida (myelomeningocele). This surgery usually takes place within the first three days of life.

The neurosurgeon puts the spinal cord and other exposed tissue deeper inside the body and covers it with muscle and skin.

Goals of early surgery:

• Reduce the risk of infection, like meningitis.
• Protect nerve tissue from further harm.
• Prevent more damage to the spinal cord.

Along with closing the spinal opening, doctors may place a shunt in the brain to let extra fluid drain if hydrocephalus is present.

The shunt moves fluid from the brain to another part of the body, where it is safely absorbed.

Sometimes, a newer technique called endoscopic third ventriculostomy (ETV) is used instead of a shunt.

In this procedure, the surgeon uses a camera to help make a small hole in the brain to allow cerebrospinal fluid to exit and lower pressure.

Table: Surgical Interventions After Birth

Procedure	Purpose	Specialist
Closure Surgery	Protects exposed spinal cord	Pediatric neurosurgeon
Shunt insertion	Relieves hydrocephalus	Neurosurgeon
ETV	Alternative for fluid buildup	Neurosurgeon

Managing Related Health Problems

Nerve damage from spina bifida cannot always be reversed. However, a range of treatments helps manage health complications and improve the child’s independence and quality of life.

Mobility and Movement

Children may have weak legs or muscle problems that make walking hard. Mobility aids such as braces, walkers, or wheelchairs may be needed. Regular physical therapy supports muscle strength and keeps joints flexible.

Bladder and Bowel Health

Many children need help with bladder and bowel control. Providers regularly check them through tests, such as X-rays, kidney scans, and ultrasound.

A pediatric urologist leads the plan, which could include medicines, catheters, or surgery. Bowel care might require medicines or enemas.

List of possible treatments for bladder or bowel issues:

• Medicine
• Catheterization
• Enemas
• Surgery

Problems Due to Hydrocephalus

About eight out of ten babies with myelomeningocele develop hydrocephalus. The most common treatment is a shunt.

A shunt is a tube placed in the brain to move extra fluid elsewhere. Shunts may need to be replaced or fixed throughout life.

Other Complications

Spina bifida can lead to:

• Scoliosis
• Clubfoot
• Tethered spinal cord
• Gastrointestinal issues
• Skin breakdown or pressure sores
• Latex allergy

Providers may recommend equipment like bath or commode chairs, standing frames, or positioning aids to support daily activities.

Common Specialists for Complications:

Specialist	Health Area
Orthopedist	Bones, scoliosis, foot deformities
Physiatrist	Physical medicine, rehabilitation
Pediatrician	General health and vaccines
Physical Therapist	Mobility, muscle weakness
Urologist	Bladder and kidney care

Long-Term Management

Children with spina bifida need ongoing and regular care. This often involves working with several doctors, therapists, and other professionals.

Members of the ongoing care team:

• Pediatric surgeons
• Neurosurgeons
• Urologists
• Orthopedists
• Physical therapists
• Occupational therapists
• Registered dietitians
• Nurses
• Social workers
• Special education teachers

What ongoing care involves:

• Monitoring growth, nutrition, and health
• Helping with education and special needs
• Giving support for social and emotional needs
• Keeping up with immunizations
• Regular checks for complications

Each child’s care is tailored to their specific needs and may change as they grow. Support for parents and caregivers is also important. They play a big role in helping the child be as healthy and independent as possible.

Education and training for families can help manage issues like bowel and bladder care, skin care, and preventing obesity.

A coordinated approach, where healthcare professionals share information and communicate well, makes long-term management of spina bifida safer and more effective.

Regular follow-up can catch new issues, such as mobility changes or new complications, improving quality of life for children living with the condition.

Living With and Finding Support

Receiving news that a child has spina bifida often brings strong emotions to families. While daily living may require special plans, many individuals with the condition take part in school, work, and building families of their own.

Support from loved ones plays a key role in helping them build confidence and reach their goals.

Families can help by encouraging independence. This might include walking with or without aids, or using wheelchairs when needed. It is important to include children in group activities and make changes as needed so that everyone can join in.

It is common for children with spina bifida to have normal intelligence, but some may need help with concentration or language skills. Educational assistance and professional services can support learning needs.

Mental health support is also valuable. Talking with a counselor or psychologist can help children manage feelings and handle challenges.

Parents and caregivers can benefit from connecting with others who face similar situations. Groups, such as those provided by the Spina Bifida Association, offer meetings, advice, and shared experiences. These connections offer comfort and practical suggestions.

Ways families can help:

• Encourage participation in daily activities
• Support goals for independent movement
• Organize regular play or social time
• Seek help from teachers and health professionals
• Join a community or online support group

With time and support, most children with spina bifida develop strong coping skills. The care of families, teachers, and friends makes a difference in their lives.

Getting Ready for Your Visit

Steps to Take Before Your Visit

Planning ahead can help the appointment go smoothly. Patients should check if there are any instructions to follow beforehand, such as drinking water before an ultrasound.

Collecting a list of any medications, vitamins, or supplements taken before and during pregnancy, including how much and how often, is helpful.

Bringing a family member or friend can make it easier to remember details shared by the healthcare team. Together, they might also think of follow-up questions or topics to discuss.

Organizing a set of questions before the visit may be useful. Some examples include:

Question	Purpose
Is spina bifida present and how severe?	Understand the diagnosis and next steps
Is fluid building up in the baby’s brain?	Learn about potential complications
Can treatment be done during pregnancy?	Find out what options exist
What happens after birth?	Prepare for immediate care
Will treatment fix the problem?	Set realistic expectations
Will my child have lasting effects?	Learn about long-term outlook
Who can help with support resources?	Link to community and services
Could this happen again in later pregnancies?	Understand risks for future babies
How can I lower the risk next time?	Discuss prevention approaches

Along with planned questions, it is important to ask any new questions that might come up during the appointment.

What the Healthcare Team Might Want to Know

Being prepared to answer the healthcare provider’s questions can lead to a more productive visit.

Health professionals may ask about previous pregnancies, especially if any complications occurred at birth, or if the family has a history of spina bifida.

They might ask if the patient took folic acid before or during pregnancy, and if the patient uses or used any anti-seizure medications. Providers may also ask if the patient can travel for specialized care if needed.

The healthcare team may review:

• Details of the patient’s pregnancy and health history.
• Use of vitamins and medicines, especially at the start of pregnancy.
• Support systems or ability to attend appointments at special centers.