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Birth Defects: Research Activities and Scientific Advances

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Institute Activities and Advances

Since the NICHD was founded, understanding the causes of birth defects, as well as their detection, treatments, and prevention have been primary goals.

Research on birth defects often begins by focusing on the specific effects or health problems resulting from that defect in an infant. Once scientists know the outcomes of a certain defect, they can backtrack, following the problem 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 birth defects, understanding their characteristics and their common pathways and patterns, and identifying possible points during growth and development when the problems might occur. These advances have led to discoveries related to detection, to prevention, and to treatment of some birth defects.

Several organizational units within the NICHD support and conduct research on various aspects of birth defects, including etiology, mechanisms, epidemiology, prevention, and treatment. A selection of these units and some of their activities are described below.

Basic and clinical research on the causes and prevention of congenital defects is a major focus of research funded by the Developmental Biology and Structural Variations Branch (DBSVB). Among the DBSVB's high-priority research areas is basic research on elucidating the biochemical, molecular, biologic, genetic, and cellular mechanisms of both normal and abnormal early development. Specific birth defects of interest include disorders of limb, skeleton, and organ development; congenital immune disorders; and nervous system defects, such as NTDs. The DBSV Branch also coordinates the Birth Defects Initiative, which promotes collaboration among NIH-funded basic and clinical investigators who are interested in structural birth defects research, and the recently formed Trans-NIH Structural Birth Defects Working Group (SBDWG), which brings together extramural program officials from NIH components with relevant missions to facilitate advances in understanding the etiology, mechanisms, epidemiology, prevention, and treatment of structural birth defects.

The Intellectual and Developmental Disabilities (IDD) Branch supports research and research training aimed at preventing and ameliorating IDDs that are present at birth. The program 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 abnormal development of the fetus. Interests relevant to birth defects include the developmental effects of environmental exposure to various agents and chemicals, the occurrence and prevention of structural defects 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 women during pregnancy. Because nearly two-thirds of all pregnant women take supplements or medications during pregnancy and labor, research supported by the OPPTB is important in order to determine whether certain medications cause birth defects 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 normal 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 normal and atypical development, the CDBB's research can help to pinpoint specific faulty processes affiliated with the problems in development or behavior that are associated with some birth defects.

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

Several organizational units within the Division of Intramural Research (DIR) conduct research on various aspects of birth defects. Inborn errors of cholesterol synthesis are the focus of the Section on Molecular Dysmorpholo​gy, 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. The DIR's Section on Gamete Developm​ent 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 birth defects in humans.

Within the Division of Intramural Population Health Research (DIPHR), the Epidemiology Branch's multicenter, multidisciplinary Birth Defects Research Group investigates the etiology of birth defects, particularly NTDs. Other birth defects research conducted by the branch concerns defects 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 birth defects.

Other Activities and Advances

The NICHD supports many large research studies and networks with the aim of learning more about birth defects, related disabilities, and health outcomes. Some of these projects are listed below.

  • The DBSVB leads the Trans-NIH Structural Birth Defects Working Group (SBDWG), which includes extramural program officials from NIH components whose missions include 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.
  • The Birth Defects Research Group, a DIPHR study, is a multicenter, multidisciplinary group led by the NICHD to investigate the etiology of birth defects, particularly NTDs.
  • The Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Centers, supported by the IDDB, aims to advance the scientific understanding of a variety of conditions and topics related to IDDs.
  • The NICHD's IDDB supports three Fragile X Syndrome Research Centers. These centers are geared toward stimulating multidisciplinary, multi-institutional research and translating basic research findings into clinical practice.
  • The Maternal-Fetal Surgery Network, supported by the PPB, was created in 2001 in response to the rising number of maternal-fetal surgeries for nonlethal conditions, such as myelomeningocele, despite a lack of evidence that the benefits of in utero (in the womb) surgery outweighed the increased risks to the fetus and the mother. The Network's recent study, Management of Myelomeningocele Study (MOMS) External Web Site Policy , found that prenatal surgery for this condition is effective at reducing disability, complications, and death from this birth defect.
  • The NICHD supports the Newborn Screening Translational Research Network External Web Site Policy, which 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 (PKU) and other disorders.
  • The Obstetric-Fetal Pharmacology Research Units (OPRU) Network is a program supported by the OPPTB to test therapeutic drugs during pregnancy. The program allows researchers to conduct safe, technically sophisticated, and complex studies that will help clinicians prevent birth defects and protect women's health.
  • The IDDB supports two of the NIH-funded Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers. The goal of the centers is to foster the translation of new scientific findings and technological developments into novel treatments for inborn disorders.
  • The IDDB also supports three consortia within the Rare Disease Collaborative Research Centers network: the Angelman, Rett, and Prader-Willi Syndromes Consortium, the Sterol and Isoprenoid Research (STAIR) Consortium, and the Urea Cycle Disorders Consortium, three types of birth defects that are linked to IDDs.
  • The DBSVB 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.
  • NICHD researchers are also active members of various research groups, including (but not limited to) NIH Fragile X Research Coordinating Group and the NIH Working Group on Down Syndrome

The Institute also supports the following scientific resources for studies of birth defects:

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