NICHD Congenital Anomalies Research Information

Understanding human development across the lifespan, including congenital anomalies and related or resulting disabilities, was a primary reason NICHD was established in 1962.

Since then, the institute has helped to establish a research community and research infrastructure for studying congenital anomalies and related disabilities. Through its many components, NICHD conducts and supports research to understand congenital anomalies; their causes and mechanisms; their prevention, detection, and treatments; and the long-term health outcomes of individuals and families affected by them.

This information focuses on research on structural congenital anomalies, their causes, their prevention, and their treatments. Research on functional/developmental congenital anomalies is addressed more completely in the intellectual and developmental disabilities content and in the condition-specific topics.

NICHD is using the term “congenital anomalies” to describe conditions that were once called “birth defects” because the latter carries negative undertones and does not reflect the many abilities and talents of those affected by these differences. Communities are still discussing alternative terms for describing these conditions. Until a consensus is reached, this website will use “congenital anomalies” to describe these health issues.

NICHD’s history is rooted in its aim to understand, to prevent, and to ameliorate a range of congenital anomalies, including neural tube defects, spina bifida, and Down syndrome.

Institute research has made critical discoveries about various congenital anomalies, including their causes, detection, prevention, and management. Research in the institute’s portfolio addresses some of the following topics:

  • Characterization of congenital anomalies. Although a great deal of information exists on the biological, neurocognitive, and behavioral processes that cause various congenital anomalies, it is still unclear for many of these disorders how the various factors interact to produce pathology. Research interests in this area range from full-spectrum phenotypic delineation throughout the lifespan to genotypic characterization of disorders in affected individuals and throughout a population. Researchers are also mapping the environmental and other influences on the etiology and severity of disorders within families and across populations.
  • Basic mechanisms of typical and atypical development. Through basic research, NICHD-funded scientists have identified many factors that regulate genetic networks triggering and controlling developmental processes and contributing to congenital anomalies. Through the use of model systems, NICHD research is identifying the myriad factors regulating the genetic networks that control these processes. Research includes studies of early embryonic events, organogenesis, and developmental neurobiology.
  • Epigenetic regulation of typical and atypical development. Epigenetic regulatory mechanisms influence developmental processes, including those that underlie some congenital anomalies, such as Prader-Willi syndrome. Investigations focus on the epigenetic changes associated with developmental milestones with the goal of understanding typical and atypical developmental states.
  • Lifetime development of individuals with congenital anomalies. There is a significant knowledge gap about how children with congenital anomalies fare socially, cognitively, vocationally, and adaptively during adulthood. NICHD-funded research seeks to fill these gaps and to improve understanding of the developmental needs of individuals of all ages who are living with congenital anomalies. Such research is particularly important for predicting developmental course and risk/protective factors as well as for developing effective, developmentally sensitive interventions across the lifespan.
  • Detection and therapeutics. NICHD-funded researchers strive to develop new technologies to detect congenital anomalies and atypical developmental processes. At the same time, efforts to identify new therapeutics to treat the symptoms and underlying causes of congenital anomalies, including pharmacological, educational, and psychological interventions, and to understand the efficacy of existing therapeutics are also ongoing. Researchers also examine why some interventions are effective for one individual and not for another. Measures of efficacy relevant to independent and adaptive functioning are of particular interest.

Through its intramural and extramural organizational units, NICHD conducts and supports a variety of research on congenital anomalies.

Institute Activities and Advances

Since NICHD was founded, understanding the causes of congenital anomalies, as well as their detection, treatments, and prevention, has been a primary focus.

Research on congenital anomalies often begins by focusing on the specific effects or health problems resulting from that anomaly. Once scientists know the outcomes of a certain anomaly, they can backtrack, following the anomaly back to early stages of development to attempt to isolate when and how it might have happened.

Through this general scheme, NICHD research has led to significant advances in defining certain congenital anomalies, understanding their characteristics and their common pathways and patterns, and identifying possible points during growth and development when the anomalies might occur. These advances have led to discoveries related to detection, to prevention, and to treatment of some congenital anomalies.

Several organizational units within NICHD support and conduct research on various aspects of congenital anomalies, including etiology, mechanisms, epidemiology, prevention, and treatment. A selection of these units and some of their activities are described in the following section.

Basic and clinical research on the causes and prevention of congenital defects is a major focus of research funded by the Developmental Biology and Congenital Anomalies Branch (DBCAB). Among DBCAB’s high-priority research areas is basic research on elucidating the biochemical, molecular, biologic, genetic, and cellular mechanisms of both typical and atypical early development. Specific congenital anomalies of interest include disorders of limb, skeleton, and organ development; congenital immune disorders; and nervous system anomalies, such as neural tube defects (NTDs).

DBCAB also coordinates the Birth Defects Initiative, which promotes collaboration among NIH-funded basic and clinical investigators who are interested in structural congenital anomalies research. Branch staff also lead NICHD's activities with the Gabriella Miller Kids First Pediatric Research Program, which focuses on developing tools and resources to better understand structural congenital anomalies and certain childhood cancers. In collaboration with the National Cancer Institute and other NIH institutes, the program is building a large data bank to enable researchers to better study children with structural congenital anomalies, childhood cancers, or both.

The Intellectual and Developmental Disabilities Branch (IDDB) supports research and research training aimed at preventing, ameliorating, and treating intellectual and developmental disabilities (IDDs) that are present at birth. The branch supports biomedical, biobehavioral, behavioral, and translational research in etiology, pathophysiology, screening, prevention, treatment, and epidemiology. Interests include congenital IDDs such as Down syndrome and Fragile X syndrome, as well as muscular dystrophy.

The Pregnancy and Perinatology Branch (PPB) supports studies of the physiologic, metabolic, and pharmacologic events related to atypical development of the fetus. Interests relevant to congenital anomalies include the developmental effects of environmental exposure to various agents and chemicals, the occurrence and prevention of structural anomalies in the newborn, and the effects of maternal health on newborn development.

The Obstetric and Pediatric Pharmacology and Therapeutics Branch (OPPTB) promotes and coordinates research to improve the safety and efficacy of pharmaceuticals used by pregnant women during their pregnancy. Because nearly two-thirds of all pregnant women take supplements or medications during pregnancy and labor, research supported by OPPTB is important to determine whether certain medications cause congenital anomalies or have other harmful effects on a fetus.

The Child Development and Behavior Branch (CDBB) supports research relevant to the psychological, psychobiological, language, behavioral, and educational development of children. Its interests include studies that focus on developmental pathways leading to typical and atypical brain development and behaviors and their underlying developmental mechanisms at the molecular, genetic, cellular, and network levels. By studying the mechanisms associated with typical and atypical development, CDBB's research can help to pinpoint specific faulty processes affiliated with the problems in development or behavior that are associated with some congenital anomalies.

The National Center for Medical Rehabilitation Research works to enhance the health, productivity, independence, and quality of life of people with disabilities due to congenital anomalies and other causes. Interests include cerebral palsy, among others.

Several organizational units within the Division of Intramural Research (DIR) conduct research on various aspects of congenital anomalies. Inborn errors of cholesterol synthesis are the focus of the Section on Molecular Dysmorphology, particularly Smith-Lemli-Opitz syndrome and Niemann-Pick disease, type C. Researchers in this section have investigated drug therapies, molecular mechanisms of disease, and biochemical markers associated with these disorders. DIR's Section on Gamete Development is interested in the coordination between meiotic cell cycle events and the developmental events of gametogenesis, which could help shed light on chromosomal missegregation during meiosis, the leading cause of miscarriage and congenital anomalies in humans.

Within the Division of Population Health Research (DiPHR), the Epidemiology Branch's multicenter, multidisciplinary Birth Defects Research Group investigates the etiology of congenital anomalies, particularly NTDs. Other congenital anomalies research conducted by the branch concerns anomalies related to alcohol consumption during pregnancy and other causes. In addition, DiPHR's Biostatistics and Bioinformatics Branch has developed novel methods for analyzing genetic data related to the inheritance of congenital anomalies.

Other Activities and Advances

NICHD supports many large research studies and networks with the purpose of learning more about congenital anomalies, related disabilities, and health outcomes. Some of these projects are listed in the following section.

The institute also supports the following scientific resources for studies of congenital anomalies:

  • The Jackson Laboratory's Neural Tube Defects Resource external link maintains and distributes animal models for research on NTDs.
  • The University of Maryland Brain and Tissue Bank external link (formerly the NICHD Brain and Tissue Bank for Developmental Disorders, supported by IDDB) 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.
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