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Birth Defects and Developmental Disabilities

Since the NICHD was founded, one of its main focuses has been on understanding the causes of birth defects, and on their treatments and prevention. The March of Dimes Birth Defects Foundation defines "birth defects" as: an abnormality of structure, function, or metabolism (body chemistry) present at birth that results in physical or mental disability, or is fatal. To date, researchers have identified thousands of different birth defects, including those classified as Intellectual and Developmental Disabilities (IDDs), such as autism spectrum disorders and Down syndrome. Currently, birth defects rank as the leading cause of death for infants during the first year of life.

The NICHD provides information on different types of birth defects, causes of birth defects, and treatments and therapies for birth defects at http://www.nichd.nih.gov/health/topics/birth_defects.cfm.

Research on birth defects often begins by focusing on the specific effects of the problem on an infant. Sometimes, the effects of birth defects can be severe, such as not being able to walk, having organ systems that aren't complete, or even death. Once scientists know the outcomes of a certain problem, they can backtrack, following the problem back to early stages of development to isolate when it might have happened. Knowing when the problem first occurred can offer insight into how it occurred.

Through this general scheme, NICHD-supported researchers and their colleagues have made great progress in understanding the characteristics of certain birth defects, the patterns that these problems take, and possible points in growth and development where the problems might occur. And, armed with this understanding, researchers have developed interventions to prevent some birth defects, methods of identifying birth defects early in development, and possible treatments for birth defects.

The NICHD's research on birth defects has not only improved the chances of survival for those affected, but has also improved the quality of life for many people impacted by birth defects and their families.

To learn more about NICHD research related to birth defects, select one of the following links:

The NICHD and other Institute are currently conducting a number of clinical trials related to birth defects.