NICHD research aims to understand the causes of structural birth defects as well as ways to help prevent them
Birth defects affect 1 in 33 babies born in the United States each year and are factors in the cause of 1 in 5 infant deaths, according to the Centers for Disease Control and Prevention (CDC). Both Birth Defects Prevention Month, held in January, and Folic Acid Awareness Week, January 6–12, aim to raise awareness about ways to reduce the risk of birth defects.
Structural birth defects include problems with body parts and structure and include Neural Tube Defects (NTDs), such as spina bifida, congenital heart defects, cleft lip and cleft palate, and abnormalities of the musculoskeletal, digestive, respiratory, and urogenital systems.
The NICHD is aware that the term “birth defects” carries negative undertones and that the term does not reflect the many abilities and talents of those affected by these problems. Communities are discussing alternative terms for describing these birth problems. Until a consensus is reached, this article uses the term “birth defects” to describe health problems present at birth.
Although research is still needed to identify the causes of many birth defects, research conducted and supported by the NICHD has already led to many advances in the understanding of ways to prevent and treat certain types of structural birth defects. Select a link below to learn more.
Identifying and treating the underlying causes and symptoms of birth defects has been a primary goal of the NICHD since it was founded in 1962. NICHD research has contributed to the understanding of many factors that increase the risk for birth defects.
For example, NICHD research showed that getting enough folic acid in the months before conception and in the first few months of pregnancy can reduce the risk of NTDs, such as spina bifida, by as much as 70%. For this reason, the U.S. Public Health Service recommends that women of childbearing age take folic acid for 3 months before getting pregnant and for the first 3 months of pregnancy. Learn more about some other risk factors for birth defects.
Folic Acid Awareness took Week , January 6–12, is a good time to learn more about folic acid and how it can help prevent birth defects, but every week should be Folic Acid Awareness Week for women of childbearing age. The CDC website provides useful information about folic acid, including a Test Your Folic Acid Knowledge quiz.
The theme of this year’s Birth Defects Prevention Month is Birth Defects Are Common, Costly, and Critical . NICHD research has made significant contributions to understanding pathways and patterns that cause birth defects, to preventing and detecting these variations, and to treatments for their symptoms in an effort to make them less common, less costly, and less critical.
Some of this research is coordinated through the Developmental Biology and Structural Variations Branch (DBSVB), formerly the Developmental Biology, Genetics, and Teratology Branch. The Branch leads the Birth Defects Working Group, a collaboration among NIH-funded basic and clinical investigators from multiple NIH Institutes and Offices and from varied backgrounds in the developmental biology and genetics of structural birth defects. The Group is derived from the Birth Defects Initiative, which the DBSVB formally started in 2000 to understand, diagnose, treat, and prevent structural birth defects. The current collaboration of 60 basic scientists and clinicians working under 37 grants has resulted in several significant findings, including a gene associated with congenital heart defects and an inherited respiratory disorder. Learn more about the Working Group and this research.
Another group that studies the causes of birth defects is the Birth Defects Research Group, led by NICHD’s Epidemiology Branch within the Division of Epidemiology, Statistics, and Prevention Research. This multidisciplinary group has made important discoveries involving neural tube defects and was the first group to confirm the role of folic acid and other vitamins in preventing birth defects. Learn more about the Birth Defects Research Group studies.
In addition to the cutting-edge research contributions that explain the patterns and causes of birth defects, NICHD is also committed to advancing detection of and treatment for birth defects.
For instance, Pregnancy and Perinatology Branch within the NICHD Division of Extramural Research supported the Management of Myelomeningocele Study (MOMS), as part of its Maternal-Fetal Surgery Network, to evaluate treatments for myelomeningocele, the most severe form of spina bifida. MOMS compared the standard treatment—surgery to correct the problem after birth—to surgery done while the baby was still in the womb. The results showed that although the prenatal surgery increased the risk of complications, including dramatically higher rates of preterm birth, it also had significant benefits. You can read more about the findings at http://www.nichd.nih.gov/news/resources/spotlight/Pages/021011-spina-bifida-MOMS.aspx. A followup study of the children who received the prenatal surgery is now underway. In 2012, the Society for Clinical Trials named MOMS its Trial of the Year.
Another NICHD collaboration that aims to detect birth defects is the Newborn Screening Translational Research Network (NBSTRN), funded by the Intellectual and Developmental Disabilities Branch. The purpose of newborn screening is to detect health conditions, including some that are not considered birth defects, as early as possible so that treatments can begin immediately, often before symptoms develop. The NBSTRN serves as a resource for investigators and organizations involved in research related to newborn screening, including new technology development and emerging treatments. Learn more about NICHD newborn screening research efforts.
For more information about birth defects, select one of the following links:
- National Birth Defects Prevention Network: Birth Defects Prevention Month
- National Council on Folic Acid: Folic Acid Awareness Week
- NICHD Resources
- A to Z Health Topics:
- Division of Extramural Research
- Division of Epidemiology, Statistics, and Prevention Research
- NICHD efforts related to birth defects
- Previous NICHD Spotlights on birth defects:
- Understanding Typical & Atypical Development: Research at the Heart of the NICHD Mission
- Alcohol & Drug-Related Birth Defects Research at the NICHD
- Spina Bifida Surgery in the Womb Decreases Complications
- MOMS: Seeking Moms to Understand Best Treatment for Spina Bifida
- The NICHD & Newborn Screening: A New Era
- NICHD News Releases on Birth Defects
- NICHD News Releases on Spina Bifida
- NICHD News Releases on Neural Tube Defects (NTDs)
Originally Posted: January 29, 2012