Birth Defects Resources

For NICHD information on specific conditions, see the A to Z topic list. Condition-specific resources are also available through the topics on specific conditions.

• The Centers for Disease Control and Prevention (CDC) Finding Support page offers links to resources for support and information, both about birth defects in general and about specific conditions.
• Medline Plus: Birth Defects offers general information on birth defects; recommendations on how to prevent, detect, and cope with birth defects; and specific information on a range of medical conditions present at birth.
• CDC's National Center on Birth Defects and Developmental Disabilities offers information on a variety of birth defects, including information on prevention, treatment, and detection.
• In this video presentation created for the general public, The Role of Research in Understanding, Preventing, and Treating Birth Defects, former NICHD Director Alan Guttmacher, M.D., discusses research successes in preventing neural tube defects as well as the role of model organisms, systems biology, and genomics in understanding, preventing, and treating birth defects.
• On its website, the American Speech-Language-Hearing Association provides information explaining communication disorders, which include disorders of speech, language, and hearing.
• The American College of Obstetricians and Gynecologists' patient handout on prenatal screening for birth defects gives an overview of the types of screening available and the conditions that health care providers look for.
• The Mayo Clinic maintains a Web resource on chorionic villus sampling that explains what this procedure is, why it's used, what to expect if undergoing this procedure, and its risks and benefits.
• The National Birth Defect Registry collects information on individuals with structural and functional birth defects as well as on their parents' health, genetics, and exposures. Information from the registry has helped to identify patterns of birth defects among children of veterans and children living in communities with toxic exposures.
• The NIH Genetic and Rare Diseases Information Center provides a range of information on various rare diseases, including condition information, information on ongoing research, and a database of patient advocacy groups.
• Cerebral Palsy Research Network
  CP Research Network focuses on optimizing the lifelong health and wellness of people with CP and their families through high-quality research, education, and community programming
  • Cerebral Palsy Tool Kit and Wellbeing Guide for Parents and Caregivers

Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS.

• NICHD's Developmental Biology and Congenital Anomalies Branch (DBCAB) led the Trans-NIH Structural Birth Defects Working Group, which included extramural program officials from NIH components whose missions included research into structural birth defects, with the ultimate goal of facilitating advances in our understanding of the etiology, mechanisms, epidemiology, prevention, and treatment of structural birth defects.
  • Gabriella Miller Kids First Pediatric Research Program
    Integrated data resource to explore whether shared genetic pathways may contribute to both structural birth defects and cancer.
• DBCAB also coordinates the Birth Defects Initiative, which promotes collaboration among NIH-funded investigators whose research spans basic, translational, and clinical approaches to understanding the developmental biology and genetics of structural birth defects.
• The Eunice Kennedy Shriver Intellectual and Developmental Disabilities (IDD) Research Centers, supported by the Intellectual and Developmental Disabilities Branch, support researchers whose goals are to advance understanding of a variety of conditions and topics related to IDDs.
• NICHD funds three Fragile X Syndrome Research Centers. These centers are geared toward stimulating multidisciplinary, multi-institutional research and translating basic research findings into clinical practice.
• NICHD's Maternal-Fetal Surgery Network conducts research on maternal-fetal surgeries for myelomeningocele.
• NICHD supports the Newborn Screening Translational Research Network. The network is developing a system for clinics and other screening providers to collect long-term follow-up and outcome data for use in research on phenylketonuria and other disorders.
• The Birth Defects Research Group, supported by the Division of Intramural Population Health Research, is a multicenter, multidisciplinary group led by NICHD to investigate the etiology of birth defects, particularly neural tube defects.
• FRAXA Research Foundation is an organization that supports researchers investigating causes, treatments, and preventative methods for Fragile X syndrome. Its website includes information about research grants and research resources.
• The National Birth Defects Prevention Network is a volunteer organization that maintains a national network of state and population-based birth defects programs. Members include public health officials, epidemiologists, academics, parents, and others committed to understanding factors that may lead to birth defects, identifying strategies for reducing birth defects, and working to prevent potential secondary disabilities.
• The March of Dimes funds research on prematurity, birth defects, and infant health. Its website contains information on research grants and training on these topics. The March of Dimes resources for health care professionals include printable patient resources, medical guidance and references, and educational opportunities relevant to birth defects.
• The Jackson Laboratory maintains and distributes animal models for research on neural tube defects.
• The Muscular Dystrophy Association provides a variety of resources for researchers, including research grant programs, conferences, training opportunities, and others.
• The Down Syndrome Consortium is a public–private collaboration that provides a forum for the exchange of information on biomedical and biobehavioral research on the syndrome. Visit About the Consortium to learn more about the Consortium and its members.
• The University of Maryland Brain and Tissue Bank (formerly the NICHD Brain and Tissue Bank for Developmental Disorders) systematically collects, stores, and distributes brain and other tissues for research dedicated to the improved understanding, care, and treatment of individuals with developmental disabilities, including autism spectrum disorders.
• The Spina Bifida Association offers research grants and awards for investigators whose work is relevant to this disorder.
• CDC's Birth Defects webpage provides information for health care providers and researchers related to birth defects, including links to data, research information, and scientific articles on birth defects as well as patient resources.
• The Association of University Centers on Disabilities (AUCD)  is an organization that supports and promotes a national network of university-based interdisciplinary programs, including the NICHD-funded Intellectual and Developmental Disabilities (IDD) Research Centers. The AUCD provides technical assistance, communication support, advocacy, and other assistance to researchers and professionals involved in the organization.

Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS