Neural Tube Defects (NTDs): Research Activities and Scientific Advances

Through its intramural and extramural organizational units, the NICHD supports and conducts a broad range of research on neural tube defects (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 the 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.

The NICHD also collaborates with institutions in Ireland, where NTDs are relatively common, through its Division of Intramural Population Health Research. 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 Structural Variation Branch (DBSVB). Researchers are investigating the specific genetic activity that drives the development and growth of the fetus both under normal conditions and when the neural tube fails to form completely.

Some recent science advances related to NTDs include:

  • Adults with spinal bifida are hospitalized frequently for preventable conditions. Surgical and medical care now enables about 85% of people with spina bifida to live well into adulthood. Once they become adults, however, many individuals with spina bifida are no longer eligible to receive services from pediatric multispecialty clinics with experience and knowledge of spina bifida. Many adults with spina bifida face difficulties in finding adequate sources of routine and specialty adult clinical care, yet remain vulnerable to multiple medical complications of their condition. A new analysis of hospital admission records shows that about one-third of the primary diagnoses for which adults with spina bifida or other congenital spinal cord problems were hospitalized during 2004 and 2005 were potentially preventable conditions. The conditions were primarily urinary tract, skin, and blood infections, but complications of surgery or medical care and other conditions were also found. These patients had an average length of hospitalization of nearly 7 days, and charges billed for their care exceeded $360 million. These findings suggest that better availability and coordination of primary and specialty care by clinicians with appropriate expertise could reap substantial savings in hospital costs while improving the quality of life for adults with spina bifida. (PMID: 20382283)
  • Neural tube closure in mouse whole embryo culture. Researchers supported by the National Institute of Neurological Disorders and Stroke (NINDS) developed a new method for studying the mechanisms involved in neural tube closure in mouse embryos. This animal model could help researchers better understand how neural tube defects arise in people, as well as aid researchers in identifying strategies for intervention. (PMID: 22042150)
  • Functional interactions between the LRP6 Wnt co-receptor and folic acid supplementation Dietary folic acid supplementation reduces the risk of neural tube defects such as spina bifida. NINDS- and NICHD-supported researchers reported new findings related to the interaction between folic acid supplementation and genetic pathways, which could inform strategies to optimize neural tube defect prevention. (PMID: 20843827)

Other Activities and Advances

To achieve its goals for research on NTDs, the 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 the NICHD participates. Some of these activities are listed below.

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