Understanding a Spina Bifida Diagnosis

Young Black woman with Spina Bifida sitting on porch swing

Front Matter

In recognition of Eunice Kennedy Shriver whose boundless vision advanced the progress of people with disabilities for generations. In appreciation for her special interest in this project and the generous contribution of the Joseph P. Kennedy, Jr. Foundation toward the funding and support of this booklet.

©2024 Joseph P. Kennedy, Jr. Foundation and the Human Development Institute. All rights reserved. Written by Stephanie Meredith. Designed by Canister (canisterstudio.com). Photos shot on location by Redefining Spina Bifida, include members of the Spina Bifida community, their friends, families, teachers, and co-workers in their schools, ballet classes, churches, neighborhoods, homes, and places of employment. Special thanks to ... Order additional copies in multiple languages at lettercase.org.

The material in this publication is intended to provide a general overview of Spina Bifida and select, reliable resources. It is not comprehensive and should not be used to substitute for quality medical advice from your provider. All decisions about a patient’s care should be fully discussed with a medical care provider. We assume no liability arising from the use of, or content within, this booklet. The statement on the back cover was provided by the Genetic Conditions Consensus Group participants who represented their respective organizations in 2023. It does not imply organizational endorsement.

Hispanic boy with Spina Bifida playing wheelchair basketball

Overview of Spina Bifida

Spina Bifida* occurs when the spinal column of a growing fetus does not form properly during early pregnancy. This can result in an opening in the spine that leaves the spinal cord and nerves exposed. Spina Bifida symptoms can vary depending on how big the opening is and where it occurs along the spine. Therefore, each case of Spina Bifida is unique. About 1400 babies are born with this condition each year in the US, and Spina Bifida occurs among all races and ethnicities.1

The range of medical conditions and abilities can vary widely for people with Spina Bifida. Each person with this condition has their own strengths and weaknesses that no one can fully predict. Some health concerns for people with Spina Bifida may include:

  • weakness or loss of feeling in parts of the body that are below the opening;
  • difficulty moving their legs with some who are unable to walk;
  • a build up of fluid on the brain (hydrocephalus);
  • and toileting issues.2

In select pregnancies, surgery may be done before birth to close the opening in the back. In other cases, surgery is done after birth.3,4 No matter when surgery is done, there is no way to cure Spina Bifida. The condition is best managed by Spina Bifida medical experts. They work closely with the parents and child to provide the ideal health care plan. Physical therapy, equipment (like braces, walkers, and wheelchairs), and good health care allow people with Spina Bifida to reach their best outcomes.

Most people with Spina Bifida have normal intelligence. Yet, some may have learning and/or social challenges.5 They can get extra help if needed through services like special education or counseling. These services are provided by school systems and state and federal agencies. Many students with Spina Bifida thrive in school, and adults with Spina Bifida can work in many different careers and live independently.6

*When we say “Spina Bifida” in this booklet, we are talking about “Open Spina Bifida” and not other neural tube defects.

A White boy with Spina Bifida wearing a helmet and riding in a custom wheelchair giving a high-five to a young man.

Spina Bifida Diagnosis


During pregnancy, a blood test can detect if a baby is more likely to have Spina Bifida. This screening test is called a maternal serum alpha-fetoprotein test (msAFP). AFP is a protein made by all babies. A blood test measures how much AFP has passed from the baby into the mother’s bloodstream. The test is done during the second trimester of pregnancy (usually at 15-20 weeks). A high level of AFP shows a greater chance that a baby will have Spina Bifida. Screening for spina bifida is available in many forms including msAFP as a single test, msAFP combined with other proteins to screen for several conditions, or ultrasound.7

Sometimes a first trimester ultrasound (11-14 weeks) can show signs that a baby has a higher chance of having Spina Bifida or other neural tube defect (NTD). An ultrasound is a photo of the baby in the womb. These are screening tests that can show an increased chance, but they are not 100% accurate.7

Confirming the diagnosis

An ultrasound and/or magnetic resonance imaging (MRI) during the second trimester of pregnancy (18 to 22 weeks) can show if a diagnosis of Spina Bifida is suspected. These detailed images can show certain features of Spina Bifida, such as the area of the spine involved, the size of the spine opening, or the amount of fluid on the brain (hydrocephalus).8

An amniocentesis may also be recommended to confirm Spina Bifida. The amniocentesis is a test done during pregnancy, usually during the second trimester. It involves using a needle to remove a small amount of fluid from around the baby. Then, the doctors can check this fluid for the AFP level and for another protein that shows the baby might have Spina Bifida. Even though Spina Bifida is usually not due to a gene or a chromosome condition, an amniocentesis can show if certain genetic factors are present.7

Explaining the diagnosis

The medical professionals involved in providing prenatal testing and explaining the diagnosis might include any of the following: obstetricians, neonatologists, midwives, maternal-fetal medicine specialists, genetics doctors, or genetic counselors. In some areas, family medicine providers, pediatricians, neurologists, nurses, or physician assistants may also be involved. The specialists who can give the most detailed information are pediatric neurosurgeons (brain and spine surgeons) and Spina Bifida clinic staff.

Receiving a diagnosis is an important time for families, and each family may have a range of emotions and questions. Some families ask what causes Spina Bifida, and, at this time, no one knows for sure. Doctors and researchers think that most cases are due to a mix of genes and environment that prevent the spine from closing. Research does show that taking folic acid can reduce chances for Spina Bifida. However, Spina Bifida can still occur even when taking folic acid. Once a family has a baby with Spina Bifida, they can meet with specialists to talk about their chances of having another child with this condition. They can discuss what might be done in future pregnancies. For example, people with a family history need an even higher dose of folic acid than found in prenatal vitamins to reduce their chances for Spina Bifida to occur again. There are still many unknowns. What is known is that Spina Bifida is usually not caused by something a parent did or did not do.9

Making Plans

Patients who are looking into prenatal screening or testing for spina bifida might want to discuss with their health providers how they plan to use the test results. Some patients might want prenatal test results to learn about possible health issues. They may want this information to help decide about prenatal and postnatal surgery options. They also might want prenatal test results to prepare emotionally. Some might use a confirmed prenatal diagnosis to make pregnancy management decisions. Patients may further use the time during pregnancy to find reliable resources on Spina Bifida. They may also want to connect with families whose children have this condition.

For all these personal decisions, obstetric medical providers and genetic counselors can give patients more information about Spina Bifida, discuss pregnancy options, and provide referrals to specialists. Pediatric neurosurgeons and Spina Bifida clinic staff can share more details about health outcomes and treatment options. They can also offer valuable knowledge about and experience with people who have Spina Bifida. They can help patients explore their personal views, values, and beliefs about a diagnosis when making decisions.

Spina Bifida clinics can be found by getting a referral from a physician or by searching online at the Spina Bifida Association clinic list.

A White toddler with Spina Bifida walking between her mom and dad.
Black mother holding newborn with Spina Bifida in the hospital

First Year Medical Issues

Spina Bifida is a type of neural tube defect (NTD). The neural tube is the part of the fetus that becomes the spine and brain. Spina bifida occurs when there is an opening in the spinal column where the spinal cord sticks out and is exposed. Spinal cords are usually protected by the spinal column and skin. When they are open in the womb, this can lead to spinal cord damage. As a result, children with Spina Bifida have higher chances for various health issues. However, advances in healthcare have greatly improved outcomes for these medical conditions.


Hydrocephalus is common for people with Spina Bifida. This is a condition where extra spinal fluid builds up in the brain. One symptom can be a head size growing too quickly. This can happen before or after a baby is born. They may also have other differences in the brain structure related to hydrocephalus.

Approximately 40-80% of babies with Spina Bifida will be born with hydrocephalus. About 10% of babies will be born with severe hydrocephalus and need treatment at the same time as the back closure or within a day or two. For this reason, your child’s doctors will monitor your baby’s head size, brain structure, and fluid very closely before and after birth. They will only recommend treatment if necessary.11

More information on treatment is included in the Prenatal and Postnatal Treatment Section.

Urology (Bowel or Bladder) Issues10

People with Spina Bifida often have bowel or bladder problems. For all humans, the spinal cord is very organized. The last nerve roots at the bottom of the spinal cord are used by the bowel, bladder, and sex organs. When these nerve roots are affected, as they are for many people with Spina Bifida, the nerve damage can make toileting difficult. Yet, many patients with Spina Bifida can manage their bowel and bladder in social settings through medicines, procedures and/or surgery.6 For example, some people living with Spina Bifida slip a small tube into their bladder at routine times during the day to drain it. This helps them stay dry and keep a healthy bladder and kidneys. Proactive bladder care is very important in keeping kidneys healthy into adulthood. Therefore, urologists (doctors who specialize in bladder and kidney care) are important Spina Bifida team members.

Mobility Issues2

Most babies with Spina Bifida also have weakness in their legs and mobility issues (problems with walking). Nerve damage can cause weak muscles, or problems in the hips, knees, and feet. For this reason, babies often need special car seats when discharged from the hospital. As children age, surgery, leg supports, and physical therapy services can help address these issues.2 Most adults with Spina Bifida can walk independently or with aids like braces or crutches, and about a third use wheelchairs.6 See more details about supports and services in the section on “Development and Healthcare” and about surgery in “Prenatal and Postnatal Treatment.”

Other Concerns

People with Spina Bifida also have higher chances of having latex allergies.2,6 The cause is unknown. This means parents need to be careful about how much their baby is around natural latex. Latex can be found in common baby products like changing pads, teethers, and pacifiers. However, non-latex options for these products are available.

Modern health care has greatly improved health and day-to-day life outcomes for people with Spina Bifida. Moreover, the vast majority live through adulthood.12 Even though they see many specialists, children with Spina Bifida also need a primary care doctor for regular health checks. People with Spina Bifida can benefit from a team-based approach with medical providers who are experts on this condition.13 Spina Bifida clinics are available across the US to provide the best care.

For more specific information about medical issues linked with Spina Bifida, please refer to the following:

Newborn with Spina Bifida in hospital bed with canula and hands of someone caring for baby

Prenatal and Postnatal Treatment

Babies with Spina Bifida need surgery to close the exposed spinal cord and skin. Surgery can be done before or after the baby is born. There are many factors to consider when deciding on the timing of surgery, and there is no right or wrong answer. There are potential risks and benefits for both options.11

Postnatal Surgery

When a baby is born with Spina Bifida, their back closure needs to be done within a few days of birth. Given the need for early surgery, most babies are delivered in a medical center that specializes in Spina Bifida or are transferred to such centers right after birth. Babies with Spina Bifida often spend some time in the newborn intensive care unit (NICU) to assess and treat health issues.13

Fetal Surgery11

In the past, a baby with open Spina Bifida would almost always undergo surgery soon after birth to close the spinal cord. However, prenatal surgery to close the spine while in the womb is now also an option. This can be offered if the mother and baby are seen by specialists and found to be good candidates for prenatal surgery.

Fetal surgery is done during a pregnancy when the baby is still inside the womb. If the parents and the medical team choose this treatment, fetal surgery is most often done before 26 weeks of pregnancy. In addition, it must be done at a medical center that specializes in fetal surgery for Spina Bifida. A specialty medical center can look at your case and let you know if you and your baby qualify for fetal surgery and the details involved.

Fetal surgery offers benefits and also poses some risks for baby and a low risk for the mother and future pregnancies. Many babies who undergo surgery in utero will be born preterm and may have complications related to their early birth. Hence, it is not appropriate for everyone. However, an NIH study showed that, more often than not, the surgery lessens the need for hydrocephalus treatment, such as shunts. It can also improve leg strength.14,15

Care After Birth

A common treatment for hydrocephalus is the placement of a ventriculo-peritoneal (VP) shunt. A VP shunt is a small tube that drains the excess fluid from the brain (ventricle) to the belly (peritoneum). Once a shunt is placed, providers watch for symptoms to avoid or treat infections and blockages.10

Instead of a shunt, the pediatric neurosurgeon may recommend a different procedure known as ETV/CPC (endoscopic third ventriculostomy with choroid plexus cauterization). An ETV is when a small brain scope is used to make an opening, or new pathway, for the brain fluid while the CPC helps decrease the amount of fluid produced. Your baby’s neurosurgeon will discuss each of these options and help you choose the best management for your child.16

Most infants with Spina Bifida are monitored in the hospital for a few days to weeks after birth. The infant is then followed by medical and surgical specialists through a Spina Bifida clinic. Infants often have many doctor and therapy appointments in the first year of life, but these tend to lessen as the child ages. The life expectancy and quality of life for those people living with Spina Bifida continues to improve with medical advances.17

For more specific information about surgeries linked with Spina Bifida, please refer to the following:

Hispanic family walking alongside young woman with Spina Bifida in wheelchair at the beach


Many parents are concerned about the potential impact of a child with Spina Bifida on their families. Research shows that children with Spina Bifida often change family dynamics, but most families grow stronger with proper support.18 One study showed that parents of children with Spina Bifida have higher marriage satisfaction than other parents.19 However, research also shows that parents of children with Spina Bifida have more stress.20 Therefore, parents of children with Spina Bifida can benefit from different types of support such as counseling, training for home care, and peer support.20 The SBA Family Functioning Guideline gives recommendations for support at each age.

Research further shows that brothers and sisters of people with Spina Bifida experience both warmth and conflict, as with most siblings. The way the whole family gets along often impacts how siblings get along.20 One study found that siblings of children with Spina Bifida reported stronger family bonds because of their sibling.21

For more information about the experiences of families who have children with Spina Bifida, please refer to the following:

Raising a child with any disability, including Spina Bifida, usually requires more time, cost, and patience.22 Therefore, people with Spina Bifida often receive government aid for important supports and services. Families in the US can also save money in tax-free ABLE accounts for individuals with Spina Bifida without losing government benefits. The funds in the account can be used for basic expenses like medical and dental care, education, community-based supports, job training, assistive technology, housing, and transportation.

For more information about government aid and savings options for people with disabilities in the US, please refer to the following:

Two White girls, one with red hair and one with Spina Bifida, walking

Development and Healthcare

Services in the United States

Early Intervention is a program that offers supports and services for children with disabilities from birth to age three through the Individuals with Disabilities Education Act (IDEA). These services, such as physical or fine motor therapy, are usually provided by each state at no cost or for a “sliding-scale” fee. Service providers work with families to teach children how to meet developmental milestones like crawling or pulling up. Children with Spina Bifida might take longer to meet these milestones or need equipment such as walkers, braces, or wheelchairs.

In addition, children with Spina Bifida in the US can usually get health coverage for their medical care under regular group health plans or state programs such as Medicaid or State Children’s Health Insurance Program (SCHIP). However, some children may need more services than a typical health plan provides. To offset the extra costs, some states or regions completely cover healthcare for people with Spina Bifida while others offer supplemental insurance programs. Some areas, however, give little additional support.

The available healthcare and development services can vary depending on where people with Spina Bifida live. Expectant parents often find it helpful to speak with other families, local chapters of the Spina Bifida Association, pediatricians, or local government offices about the services in an area.

For more information about state services, please also refer to the following:

White boy with Spina Bifida walking on the beach

Educational Services

Federal law in the US gives all children the right to a free and appropriate education in the public school system. If children with Spina Bifida receive Early Intervention in the first three years, they may also qualify for pre-school services for students with disabilities in public schools.

Most children with Spina Bifida have normal intelligence, but some may have learning challenges.5 Children with the most severe spinal cord damage and hydrocephalus have the highest chances for learning problems. Therefore, special testing is available for all children with Spina Bifida to find out areas where they might need extra help and what services they might need. Children with Spina Bifida who have learning challenges can receive extra classroom support or special education services — such as small group learning or fine motor therapy — based on individual needs.

Some students with Spina Bifida may also need accommodations (extra steps taken) in school for mobility or health issues. For example, they may need more bathroom breaks or to sit on a softer seat. They might need extra time moving around the class and school. The Americans with Disabilities Act requires schools to make sure students with disabilities can get the access and support they need. These services may be contained in an Individualized Education Plan (IEP) or a 504 plan.

Children with Spina Bifida have a wide range of abilities. Parents, educators, and medical professionals can help them achieve their potential by working as a team. Many students with Spina Bifida go on to attend college and work in a wide range of fields.

For more information about education resources for students with Spina Bifida, please also refer to the following:

Multiracial young man with Spina Bifida in competitive wheelchair race

Spina Bifida Resources

The Spina Bifida Association (SBA) is the national Spina Bifida organization in the United States. SBA develops educational resources for providers and families in English and Spanish. SBA advocates on behalf of people with Spina Bifida and can also give referrals to local chapters. Local SBA chapters can share local resources and offer contacts with other families, if desired.

For more information about Spina Bifida and referrals, please see the following SBA resources:

Spina Bifida Association

White family on couch, one sibling has Spina Bifida


Adoption in the US is usually handled by a state-licensed adoption agency or a private adoption lawyer. Families who are interested can explore adoption during pregnancy or after a baby is born.

Patients considering adoption can ask their medical providers for referrals to local adoption agencies, particularly ones that have experience placing children with Spina Bifida. Adoption agencies generally offer a range of services that can include facilitating the screening and selection of adoptive parents, working out the level of “openness” between the birth and adoptive parents, and providing financial assistance in some cases. They can also offer pre-adoption and post-placement counseling to help birth parents cope with their emotions.23

For more information about the adoption of children with Spina Bifida, please refer to the following:

Young Black boy with Spina Bifida sitting, leaning against a tree


Expectant parents who learn about a prenatal Spina Bifida diagnosis should receive accurate and up-to-date information about Spina Bifida, including real-life experiences, common medical issues, available social services, and expected development. Parents should also receive reliable information about testing, treatment options, and pregnancy management. Together, obstetric medical providers, pediatricians, genetic counselors, neurosurgeons, other health care providers with expertise in Spina Bifida, and Spina Bifida organizations can provide a breadth of information to give patients a well-rounded understanding of Spina Bifida.

Young Hispanic girl with walker and smiling


This booklet was prepared with assistance from the
Prenatal Conditions Consensus Group which includes representatives of:

The American Academy of Pediatrics
The American College of Obstetricians and Gynecologists
The Association of University Centers on Disabilities
The Fetal Therapy Nurse Network
The National Society of Genetic Counselors
Redefining Spina Bifida
The Spina Bifida Association

We would like to thank the following who offered their expertise and feedback for this resource:

Amanda Kern, Redefining Spina Bifida
Amy B Powne MSN, RN, PCNS-BC, Fetal Therapy Nurse Network
Angela Trepanier, MS, CGC, Wayne State University
Britton Rink MD, Nationwide Children’s Hospital, Columbus, Ohio
Eliza Gordon-Lipkin, MD
Harold Kleinert, EdD, University of Kentucky
Janet Onufer, OD
Judy Thibadeau, RN, MN, Spina Bifida Association
Paige Terrien Church, MD
Colleen Payne, Spina Bifida Association
Robin Bowman, MD

We would also like to thank all the families and individuals who participated in the photos and their generous donation of time.

We are also very grateful to the Joseph P. Kennedy, Jr. Foundation for funding the development of this important resource.

Hispanic man with Spina Bifida in a wheelchair talking to a Black man with Spina Bifida in a college courtyard

End Notes

1. Mai CT, Isenburg JL, Canfield MA, et al. National population-based estimates for major birth defects, 2010–2014. Birth Defects Res. 2019;111(18):1420-1435. doi:10.1002/bdr2.1589
2. Gordon-Lipkin, E, Lipkin, P. Spina Bifida. HealthyChildren.org. Published April 21, 2023. Accessed January 18, 2023. https://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Spina-Bifida.aspx
3. Moldenhauer JS, Adzick NS. Fetal surgery for myelomeningocele: After the Management of Myelomeningocele Study (MOMS). Semin Fetal Neonatal Med. 2017;22(6):360-366. doi:10.1016/j.siny.2017.08.004
4. Masini L, De Luca C, Noia G, et al. Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center: Prenatal diagnosis and long-term outcome of 222 cases of fetal spina bifida. Ultrasound Obstet Gynecol. 2019;53(3):302-308. doi:10.1002/uog.20136
5. Spennato P, Savarese L, Cinalli G. Intellectual Outcome in Spina Bifida. In: The Spina Bifida. Springer Milan; 2008:405-411. doi:10.1007/978-88-470-0651-5_32
6. Morley CP, Struwe S, Pratte MA, et al. Survey of U.S. adults with spina bifida. Disabil Health J. 2020;13(2):100833. doi:10.1016/j.dhjo.2019.100833
7. Mayo Clinic. Spina bifida. Spina bifida. Accessed February 2, 2023. https://www.mayoclinic.org/diseases-conditions/spina-bifida/diagnosis-treatment/drc-20377865
8. Coleman BG, Langer JE, Horii SC. The Diagnostic Features of Spina Bifida: The Role of Ultrasound. Fetal Diagn Ther. 2015;37(3):179-196. doi:10.1159/000364806
9. Copp AJ, Stanier P, Greene ND. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013;12(8):799-810. doi:10.1016/S1474-4422(13)70110-8
10. CDC. Spina Bifida Health Issues and Treatments | CDC. Centers for Disease Control and Prevention. Published September 1, 2020. Accessed February 7, 2023. https://www.cdc.gov/ncbddd/spinabifida/treatment.html
11. Adzick NS, Thom EA, Spong CY, et al. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. N Engl J Med. 2011;364(11):993-1004. doi:10.1056/NEJMoa1014379
12. Bowman RM, McLone DG, Grant JA, Tomita T, Ito JA. Spina Bifida Outcome: A 25-Year Prospective. Pediatr Neurosurg. 2001;34(3):114-120. doi:10.1159/000056005
13. Burke R, Liptak GS, the Council on Children With Disabilities. Providing a Primary Care Medical Home for Children and Youth With Spina Bifida. Pediatrics. 2011;128(6):e1645-e1657. doi:10.1542/peds.2011-2219
14. Farmer DL, Thom EA, Brock JW, et al. The Management of Myelomeningocele Study: full cohort 30-month pediatric outcomes. Am J Obstet Gynecol. 2018;218(2):256.e1-256.e13. doi:10.1016/j.ajog.2017.12.001
15. Houtrow AJ, MacPherson C, Jackson-Coty J, et al. Prenatal Repair and Physical Functioning Among Children With Myelomeningocele: A Secondary Analysis of a Randomized Clinical Trial. JAMA Pediatr. 2021;175(4):e205674. doi:10.1001/jamapediatrics.2020.5674
16. Coulter IC, Dewan MC, Tailor J, Ibrahim GM, Kulkarni AV. Endoscopic third ventriculostomy and choroid plexus cauterization (ETV/CPC) for hydrocephalus of infancy: a technical review. Childs Nerv Syst. 2021;37(11):3509-3519. doi:10.1007/s00381-021-05209-5
17. Houtrow A, Dicianno BE. Advances in spina bifida care: from the womb to adulthood. Curr Phys Med Rehabil Rep. 2014;2(2):71-78. doi:10.1007/s40141-014-0046-1
18. Holmbeck GN, Devine KA. Psychosocial and family functioning in spina bifida. Dev Disabil Res Rev. 2010;16(1):40-46. doi:10.1002/ddrr.90
19. Kritikos TK, Winning AM, Smith ZR, Holmbeck GN. Trajectories of Marital Satisfaction among Parents of Youth with Spina Bifida. J Pediatr Psychol. 2022;47(10):1195-1206. doi:10.1093/jpepsy/jsac059
20. Bellin MH, Rice KM. Individual, family, and peer factors associated with the quality of sibling relationships in families of youths with spina bifida. J Fam Psychol. 2009;23(1):39-47. doi:10.1037/a0014381
21. Kritikos TK, Holmbeck GN. Family functioning guidelines for the care of people with spina bifida. Brei T, Castillo H, Castillo J, eds. J Pediatr Rehabil Med. 2020;13(4):535-542. doi:10.3233/PRM-200720
22. Parish SL, Rose RA, Grinstein-Weiss M, Richman EL, Andrews ME. Material Hardship in U.S. Families Raising Children with Disabilities. Except Child. 2008;75(1):71-92. doi:10.1177/001440290807500104
23. Perry CL, Henry MJ. Exploring Adoption with Clients: The Need for Adoption Education Within the Genetic Counseling Profession. J Genet Couns. 2010;19(4):305-314. doi:10.1007/s10897-010-9288-y