Also Known As
NTD
Spina bifida
Myelocele
Myelomeningocele
Spinal dysraphism
Anencephaly
This article was last reviewed on
This article waslast modified on October 28, 2019.
What are neural tube defects?

Neural tube defects (NTDs) are birth defects. They are a group of disorders, including spina bifida, anencephaly, and encephalocele, that arise early in pregnancy that affect the development of a baby and can cause life-long complications of varying severity.

During the first 3 to 4 weeks of a pregnancy, specific cells in a developing baby curl up and their edges fuse together to form a narrow tube that becomes the foundation of the spinal cord, brain, and the bone and tissues that surround them. This neural tube fusing process usually is complete by 6 weeks of pregnancy, before many women even know that they are pregnant. A neural tube defect occurs when the tube does not close properly somewhere along its length.

Normally, the spinal cord and brain are surrounded and cushioned by cerebrospinal fluid (CSF) and are protected by outer layers of tissue called the meninges. The brain is further protected by the skull, and the spinal cord is protected by the bones of the spine (vertebrae), which form a flexible protective armor of bone. When someone has an NTD, there are one or more gaps in the brain or spinal cord's protection. This can affect the brain's development and can leave the spinal cord vulnerable to damage. Because the spinal cord contains the nerves that control body movements and functions, any damage that occurs can paralyze or weaken associated muscles and organs. The type of NTD that develops, its severity, its effect on fetal development, and its potential for future complications will depend upon where the defect is and what tissues are involved.

The cause of NTDs is not known. Scientists believe that there are genetic, environmental, and nutritional components. According to the March of Dimes, neural tube defects happen in about 3,000 pregnancies each year in the United States. About 1,500 babies are born in the U.S. with spina bifida, the most common NTD, according to the National Institute of Child Health and Human Development. Less commonly, encephalocele affects about 340 infants and about 1,200 are born with anencephaly, according to the Centers for Disease Control and Prevention. See below for more information on these types of NTDs.

Accordion Title
About Neural Tube Defects
  • Types

    There are several types of NTDs that vary in their severity. Depending on the type of defect and the location, the symptoms can range from mild to severe and the complications can vary from minor to serious, including intellectual and physical disabilities, and/or be life-threatening. The two most common types of neural tube defects are spina bifida and anencephaly.

    Spina bifida

    Spina bifida, which literally means "cleft spine," is the most common type of NTD. According to the National Institute of Neurological Disorders and Stroke, spina bifida affects about 1,500 to 2,000 of the babies born in the United States each year. It occurs when the neural tube does not close completely somewhere along the spine.

    Different types of spina bifida include:

    • Occulta. Spina bifida occulta is often called hidden spina bifida. A small gap may exist in one or more of the vertebrae, but the spinal cord and tissues are normal. Many people with this condition do not have any symptoms, although it can lead to back pain or bladder function issues, and may never know that it exists unless it is identified during imaging tests done for another reason.
    • Closed neural tube defects are frequently grouped with spina bifida occulta. They consist of a wide variety of spinal defects with malformed bone, tissue, and/or fat deposits at the location of the defect. Often, there is a visible sign on the outside of the baby's skin. This may be a tuft of hair, a dimple, a birthmark, or lump. Many with this condition will have few symptoms, but some may have nerve damage that affects normal bowel or urinary function and/or can cause lower body weakness and pain. Closed neural tube defects are often not detected by prenatal screening tests.
    • Meningocele. With this type of spina bifida, cerebrospinal fluid and meninges have ballooned out of the spinal opening to form a bulge or sac, but the spinal cord is usually in its normal location. This bulge may or may not be covered with a layer of skin. This bulge will be noticeable on the back of the baby. Symptoms of this type are variable.
    • Myelomeningocele. This is the most severe type of spina bifida. It develops when the cerebrospinal fluid, meninges, and the spinal cord protrude through the opening in the spine. It leaves the spinal cord vulnerable to damage and can cause paralysis in those parts of the body below the opening. Those affected with a myelomeningocele frequently have bowel and urinary dysfunction. Some will require assistance to walk and others will require a wheelchair. Newborns with this condition are at an increased risk of developing meningitis.

    Approximately 15% to 25% of children with myelomeningocele will develop hydrocephalus. This complication occurs when the flow of cerebrospinal fluid is obstructed and accumulates in the brain. The child's head becomes larger and the fluid applies pressure on the brain. Approximately 80% to 90% of those with hydrocephalus will require shunting, or placement of a tube to allow draining of the excess cerebrospinal fluid. Left untreated, this condition can cause varying degrees of intellectual disability and can be fatal in some cases.

    Those with myelomeningocele may also have a Chiari malformation. This is a structural defect in which the cerebellum, the portion of the brain that sits just above the spinal cord, protrudes down into part of the space normally occupied by the spinal cord. The cerebellum controls balance. People with a Chiari malformation may experience a range of symptoms, including sensory disturbances, vision problems, headaches, neck pain, and dizziness.

    Anencephaly

    Anencephaly occurs when the neural tube fails to close properly at the head. The result is the lack of development of a large portion of the brain and skull. The Centers for Disease Control and Prevention estimates that about 3 in 10,000, or 1,206, pregnancies in the U.S. have anencephaly. Most of those affected are stillborn or die within a few hours or days.

    Rare Forms

    There are varieties of other, rarer forms of NTDs. All are associated with a lack of proper neural tube formation. Examples of these include:

    • Encephalocele – protrusion of membranes and brain tissue through a bony defect of the skull; this can occur anywhere along the center of the skull, in the front or back; newborns with this condition may have microcephaly (small head) and develop hydrocephalus. Prognosis depends on the location and severity of the defect.
    • Iniencephaly – severe defect where the spine joins the skull; the head is bent back at a severe angle and the baby does not usually have a neck; associated with other abnormalities and most affected infants do not survive.
  • Risk Factors

    Some factors that increase the risk of having a baby with an NTD include:

    • Personal history—people who have an NTD or a child diagnosed with NTD
    • Family history—people who have family members with an NTD
    • Use of some anti-seizure medications, such as valproic acid, has been associated with an increased risk. A woman should discuss her medications with her healthcare provider before becoming pregnant.
    • Certain diseases in the mother, such as diabetes or obesity
    • High body temperature in the mother early in the pregnancy
    • Use of opioids in the first two months of pregnancy

    Risk can be reduced but not eliminated by ensuring that the mother has adequate folate, also called folic acid, at the time of conception. See the section on Prevention below.

  • Signs and Symptoms

    Signs and symptoms of neural tube defects vary from person to person and can change over time. Spina bifida, one of the two most common neural tube defects, may have no symptoms or only minor disabilities but can also lead to severe physical and intellectual disabilities in some cases. Health issues will vary for each individual.

    Between 20% and 50% of people with spina bifida may develop tethered cord syndrome. This occurs when the spinal cord becomes attached to bone or skin (such as scar tissue) and is unable to flex and move. The cord becomes stretched and can lead to nerve damage. In children, it can lead to spine issues such as scoliosis (curvature of the spine). Surgery to untether the cord can prevent further damage but is not likely to correct nerve or tissue damage that has already occurred.

    Babies born with myelomeningocele (a form of spina bifida) may experience hydrocephalus, an accumulation of fluid in the brain. These children may also develop meningitis, an infection in the tissues surrounding the brain. Usually, a surgeon will implant a shunt to drain the fluid as needed. Children with hydrocephalus are at increased risk for developmental and learning disabilities.

    People with spina bifida in the upper portion of the spine may be paralyzed, but those who have a defect in the lower portion of the spine may be able to walk or stand on their own or with the aid of crutches or braces. Urinary tract dysfunction and constipation are common among people with spina bifida, and skin problems can arise due to a lack of sensitivity in the lower extremities. Children with spina bifida may also have latex allergies as well as higher rates of depression and obesity.

    Life expectancy for babies born with anencephaly, a neural tube defect where the forebrain or cerebrum does not form, is typically very short.

    • Tests

      The goals of testing are to detect and diagnose neural tube defects in a developing baby and/or in a newborn and to evaluate severity and complications. Very mild cases of NTDs may never be detected or may be detected later in life when testing is performed for other reasons.

      Laboratory Tests

      Laboratory tests are generally used to screen for neural tube defects during pregnancy. They may include:

      • Alpha-fetoprotein (AFP) or maternal serum screen (triple screen or quad screen) – AFP is a protein produced by fetal tissue. During development, AFP levels in fetal blood and amniotic fluid rise until about 12 weeks, and then levels gradually fall until birth. Some AFP crosses the placenta into the mother's blood. An AFP test is used to screen for neural tube defects such as spina bifida. An increased level of AFP in the mother's blood has been associated with an increased risk of an open NTD in the baby.
      • AFP and acetylcholinesterase in amniotic fluid (see Amniotic Fluid Analysis) – if the AFP is elevated in the mother's blood, AFP and acetylcholinesterase can be measured in amniotic fluid, as confirmatory tests. 
      • An evaluation of a baby's chromosomes (fetal karyotype test) may also be done on amniotic fluid at the same time to rule out chromosomal abnormalities as a cause of abnormal AFP. These tests are performed with or after a fetal ultrasound.

      A variety of laboratory and non-laboratory tests may be performed after birth to help evaluate and monitor the health of various organs, such as the kidneys and bladder.

      Non-Laboratory Tests

      Fetal ultrasound may be used to help detect defects in a developing baby and help diagnose NTDs prior to birth. For more on this, see RadiologyInfo.org: Obstetric Ultrasound.

      Scans done after a baby is born may include:

      • X-ray, MRI (magnetic resonance imaging), and/or CT scan (computed tomography) of the spine and vertebrae after birth to look for defects and deformities
      • X-ray or CT scans of the head to detect excess fluid when hydrocephalus is suspected
    • Prevention

      It is generally recommended that all women of childbearing age get at least 400 micrograms (mcgs) of folate a day to prevent NTDs. This helps ensure that pregnant women or women who are planning a pregnancy get enough folate (folic acid). Recent evidence suggests that folic acid supplementation could reduce the incidence of neural tube defects by up to 70%, but the protection it provides must be in place at the time of conception. Ideally, a woman should begin taking folate a month before becoming pregnant and continue throughout her pregnancy.

      Women at a high risk for NTDs (such as women who have or have a child with spina bifida) should take 4,000 micrograms of folic acid each day through week 12 of pregnancy, but this is not recommended for the general population.

      Since folic acid is a water-soluble vitamin, it must be constantly replenished. In addition to supplements, folic acid can be found in dark green vegetables and some fruit. Most grain products in the U.S. are good sources because they have been fortified with added folic acid.

    • Treatment

      There is no cure for NTDs, and any nerve damage or loss in function is permanent. Monitoring is initiated as soon as a neural tube defect is detected. Those with a mild NTD may not require treatment, but many of those affected require one or more surgical interventions with needs that begin at birth and change over time. New options are constantly emerging and parents should work with their healthcare providers to determine which treatments are right for their child.

      Children with hydrocephalus are typically treated by implanting a shunt that allows excess cerebrospinal fluid to drain into the abdomen.

      Usually, a baby born with spina bifida requires surgery to close the spinal defect and protect exposed nerves from further damage. The surgery is typically performed immediately following delivery or during the first few days of life.

      Prenatal (or fetal) surgery is another treatment option. A study sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development suggests that there are better health outcomes when prenatal surgery is performed between 19 and 26 weeks of pregnancy as opposed to waiting until the baby is born. The study showed that covering the neural tube defect with layers of the fetus's tissue resulted in better motor function at 30 months age than in babies who received surgery post-delivery. Babies who received prenatal surgery also showed a reduced need for shunt placement. There are increased risks to the mother and baby with prenatal surgery, however. The mothers required follow-up monitoring and cesarean deliveries, and many of the babies were born prematurely. Since 1997, more than 200 fetuses have had in-utero closure of myelomeningocele through open maternal-fetal surgery.

    View Sources

    Sources Used in Current Review

    General Information About NTDs, Folic Acid, and Folate. Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/ncbddd/folicacid/faqs/faqs-general-info.html. Accessed on July 6, 2019.

    Neural Tube Defects. March of Dimes. Available online at https://www.marchofdimes.org/complications/neural-tube-defects.aspx. Accessed on Accessed on July 6, 2019.

    What is Spina Bifida. Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/ncbddd/spinabifida/facts.html. Accessed on Accessed on July 6, 2019.

    Spina Bifida Fact Sheet. National Institute of Neurological Disorders and Stroke. Available online at https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Spina-Bifida-Fact-Sheet. Accessed on July 10, 2019.

    [July 9, 2019] Anencephaly. Genetics Home Reference/U.S. National Library of Medicine. Available online at https://ghr.nlm.nih.gov/condition/anencephaly. Accessed on July 10, 2019.

    [November 21, 2017] Facts About Anencephaly. Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html. Accessed on July 10, 2019.

    [November 21, 2017] Facts About Encephalocele. Centers for Disease Control and Prevention. Available online at https://www.cdc.gov/ncbddd/birthdefects/encephalocele.html. Accessed on July 10, 2019.

    [July 2015] Spina Bifida: Effects, Risks, Diagnosis and Prevention. American Pregnancy Association. Available online at https://americanpregnancy.org/birth-defects/spina-bifida/. Accessed on July 10, 2019.

    [July 9, 2019] Spina Bifida. Genetics Home Reference/U.S. National Library of Medicine. Available online at https://ghr.nlm.nih.gov/condition/spina-bifida. Accessed on July 10, 2019.

    [August 17, 2018] About Neural Tube Defects. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Available online at https://www.nichd.nih.gov/health/topics/ntds/conditioninfo. Accessed on July 10, 2019.

    [April 1, 2019] Spina Bifida Hydrocephalus and Shunts. Medscape. Available online at https://emedicine.medscape.com/article/937979-overview. Accessed on July 10, 2019.

    [June 21, 2017] Management of Myelomeningocele Study (MOMS) (MOMS). ClinicalTrials.gov. Available online at https://clinicaltrials.gov/ct2/show/NCT00060606. Accessed on July 11, 2019.

    Folic Acid. March of Dimes. Available online at https://www.marchofdimes.org/pregnancy/folic-acid.aspx. Accessed on July 11, 2019.

    Sources Used in Previous Reviews

    Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby's Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO.

    (2005 June). Spotlight on Spina Bifida. Spina Bifida Association [On-line information]. Available online through http://www.sbaa.org. Accessed on 3/2/07.

    (2005 September). Spina Bifida. NeurosurgeryToday.org [On-line information]. Available online at http://www.neurosurgerytoday.org/what/patient_e/spina.asp. Accessed on 3/3/07.

    (2007 March 1). Spina Bifida Fact Sheet. National Institute of Neurological Disorders and Stroke [On-line information]. Available online at http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm. Accessed on 3/3/07.

    Brand, M. C. (2006 September 20). Part 2: Examining the Newborn With an Open Spinal Dysraphism. Medscape from Advances in Neonatal Care [On-line information]. Available online at http://www.medscape.com/viewarticle/543524_2.

    (2007 February 12, Updated). Chiari Malformation Fact Sheet. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm. Accessed on 3/3/07.

    (2007 February 14, Updated). Cephalic Disorders Fact Sheet. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm. Accessed on 3/3/07.

    (2007 February 08, Updated). NINDS Anencephaly Information Page. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm. Accessed on 3/3/07.

    (2007 February 12, Updated). NINDS Encephaloceles Information Page. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm. Accessed on 3/3/07.

    (2007 February 13, Updated). NINDS Hydranencephaly Information Page. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/hydranencephaly/hydranencephaly.htm. Accessed on 3/3/07.

    (2007 February 13, Updated). NINDS Iniencephaly Information Page. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/iniencephaly/Iniencephaly.htm. Accessed on 3/3/07.

    (2007 February 14, Updated). NINDS Tethered Spinal Cord Syndrome Information Page. NINDS [On-line information]. Available online at http://www.ninds.nih.gov/disorders/tethered_cord/tethered_cord.htm. Accessed on 3/3/07.

    (2007 February 19, Updated). Neural Tube Defects. National Institute of Child Health & Human Development [On-line information]. Available online at http://www.nichd.nih.gov/health/topics/neural_tube_defects.cfm/. Accessed on 3/04/07.

    (2003 February, Revision). Prenatal Diagnostic Testing. Merck Manual Second Home Edition [On-line information]. Available online at http://www.merck.com/mmhe/print/sec22/ch256/ch256c.html. Accessed on 3/04/07.

    (2004 June). Maternal Blood Screening for Down Syndrome and Neural Tube Defects. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/professionals/681_1166.asp. Accessed on 2/17/07.

    (2006 January). The Second Trimester. womenshealth.gov [On-line information]. Available online at http://www.womenshealth.gov/pregnancy/pregnancy/2nd.cfm. Accessed on 2/25/07.

    Liptak, G. (2006 April, Revised). Brain and Spinal Cord Defects. Merck Manual Second Home Edition [On-line information]. Available online at http://www.merck.com/mmhe/print/sec23/ch265/ch265h.html.

    Kaufman, B. Pediatric Clinics of North America 2004; 51: 389-419.

    Jallo, G. and Becske, T. (Updated 2010 August 13). Neural Tube Defects. eMedicine [On-line information]. Available online at http://emedicine.medscape.com/article/1177162-overview. Accessed March 2011.

    (© 1996-2011). Spina Bifida. The Children's Hospital of Philadelphia, Latest News and Events [On-line information]. Available online at http://www.chop.edu/healthinfo/spina-bifida.html. Accessed March 2011.

    Moore, A. (2011 February 9). Fetal Surgery Takes a Huge Step Forward in Treating Children with Spina Bifida. The Children's Hospital of Philadelphia, Latest News and Events [On-line information]. Available online at http://www.chop.edu/news/fetal-surgery-improves-outcomes-in-spina-bifida.html. Accessed March 2011.

    Ashwood, E. et. al. (Updated 2010 December). Prenatal Screening and Diagnosis. ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/PrenatalScreenDx.html. Accessed March 2011.

    Mayo Clinic Staff (2011 February 16). Spina bifida. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/spina-bifida/DS00417. Accessed March 2011

    Liptak, G. (Revised 2009 September) Spina Bifida. Merck Manual for Healthcare Professionals [On-line information]. Available online at http://www.merckmanuals.com/professional/print/sec19/ch292/ch292c.html. Accessed March 2011.

    Adzick, S. et al. 2011. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. The New England Journal of Medicine. Available online at http://www.nejm.org/doi/full/10.1056/NEJMoa1014379#t=articleBackground. Accessed July 30, 2014.

    Birth Defects. March of Dimes. Available online at http://www.marchofdimes.com/baby/neural-tube-defects.aspx. Accessed July 29, 2014.

    Disease and Conditions: Spina bifida. Mayo Clinic. Available online at http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/complications/con-20035356. Accessed July 29, 2014.

    Driscoll, D. and Gross, S. 2009. Screening for fetal aneuploidy and neural tube defects. Genetics in Medicine vol. 11. Available online at http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111043/. Accessed July 30, 2014.

    Ellenbogen, R. 2012. Neural Tube Defects in the Neonatal Period Workup. Available online at http://emedicine.medscape.com/article/1825866-workup. Accessed July 30, 2014.

    Facts about anecephaly. Centers for Disease Control and Prevention. Available online at http://www.cdc.gov/ncbddd/birthdefects/anencephaly.html. Accessed July 29, 2014.

    Spina Bifida Fact Sheet. National Institute of Neurological Disorders and Stroke. Available online at http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm . Accessed July 30, 2014.