NICHD Neural Tube Defects (NTDs) Research Information

NICHD is one of several NIH institutes and other federal entities that support and conduct research on NTDs. NTDs, including spina bifida, are developmental malformations resulting from atypical or incomplete closure of the neural tube. NICHD conducts and supports research on the precursors of neural tube defects and their causes, detection, treatment, and effect on children’s motor and cognitive development.

NTDs can be severely disabling. The NICHD research profile on NTDs, including spina bifida, integrates intramural and extramural programs to advance treatment, provide effective support and rehabilitation, and investigate possible avenues for prevention.

The focal points of this research include:

  • Studying the genetic causes of neural tube defects
  • Improving prenatal diagnosis and treatment
  • Defining developmental effects
  • Assessing interventions to support robust motor development, learning capacity, and social integration

Through its intramural and extramural organizational units, NICHD conducts and supports a broad range of research on NTDs.

Institute Activities and Advances

NICHD-supported researchers investigate the genetics of NTDs, as well as neurological and environmental variables that influence neurobehavioral outcomes. They assess the effects of these conditions on physical and intellectual development in early childhood, develop new diagnostic ultrasound techniques, and study the advantages of spinal cord repair while the affected fetus is still in the uterus.

The Pregnancy and Perinatology Branch (PPB) supports research on the detection and treatment of spina bifida, the most common neural tube defect. PPB-supported researchers have validated positive outcomes of in utero surgery to repair myelomeningocele, the most severe form of spina bifida. In addition, with the support of the PPB, scientists investigate the potential development of new techniques for diagnosing spina bifida before birth.

The Intellectual and Developmental Disabilities Branch (IDDB) supports an extensive body of research evaluating the cognitive, motor, and social development of people with spina bifida. These studies examine development across infancy, childhood, and adolescence. IDDB studies on neural tube defects also examine specific interventions to stimulate motor skills, such as walking during infancy and the toddler years; investigate the long-term effects of spina bifida on the ability to learn; and assess the effects of spina bifida on forming and maintaining relationships in early adolescence.

These programs are complemented by other research areas of NICHD on genetic risk, patterns of embryonic development, and prenatal nutritional status. For example, the intramural Program in Genomics of Differentiation uses zebrafish to investigate patterns of genes in embryonic development.

NICHD also collaborates with institutions in Ireland, where NTDs are relatively common, through NICHD’s Division of Population Health Research (DiPHR). In one of these studies, researchers found that women with low levels of vitamin B have an increased risk for giving birth to a child with an NTD.

Human genetics is also the focus of research supported by the Developmental Biology and Congenital Anomalies Branch (DBCAB). Researchers are investigating the specific genetic activity that drives the development and growth of the fetus both under typical conditions and when the neural tube fails to form completely.

Some recent NICHD science advances related to NTDs include:

  • Myelomeningocele in children is linked to increased risk factors for other conditions. Myelomeningocele is associated with long periods of inactivity, which can contribute to higher rates of obesity. Because obesity can increase risk for developing other conditions, researchers aimed to find out whether children with myelomeningocele had early signs of these conditions. (PMID: 26666357)
  • Exposure to Zika virus in the womb can cause long-term health effects. NICHD hosted a workshop for experts in multiple fields related to Zika virus. This summary of the workshop discussions indicates that more research is needed and that Zika-affected children should be monitored as they grow. Read a news release about the workshop. (PMID: 28241263)
  • Muscle-related fat is higher in children with myelomeningocele. Researchers used computed tomography (CT) scans to look at bones, muscle, and fat in the lower legs of children with myelomeningocele and children without the condition. (PMID: 26961265)
  • Gene variants can increase myelomeningocele risk. Researchers aimed to understand whether certain variants in genes related to glycine breakdown could prevent healthy development and nerve growth, thereby raising the risk of NTDs. (PMID: 27620832)

Other Activities and Advances

To achieve its goals for research on NTDs, NICHD supports a variety of other activities. Some of these activities are managed through the organizational units listed above. Other activities are part of NIH-wide or collaborative efforts in which NICHD participates. Some of these activities are listed below.

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