Birth Defects Research: Multidisciplinary Solutions for Understanding and Prevention

Birth Defects Insights, a Teratology Society Blog

By Dana Shuey, PhD, DABT, Teratology Society President

To read this blog on Medium, please click HERE.

In November I had the opportunity to attend a Capitol Hill briefing entitled “The Next Frontier: Research in Pregnant Women and Breastfeeding Women.” The session was sponsored by the Society for Maternal-Fetal Medicine and co-sponsored by other organizations committed to women’s and prenatal health. The intent of the session was to advocate for resources and guidance to break down current barriers to conducting research in pregnant and lactating women. There were presentations from government, industry and academia discussing the current state of research, as well as ongoing challenges, and impact on clinical practice. The event was standing room only!

I came away from the session with two very strong messages involving the birth defects research field that seem incredibly appropriate to discuss now during January’s Birth Defects Prevention Month:

1) It is time we stop protecting pregnant and lactating women from research, and protect them through research.

Clinical research in pregnancy and lactation is helping to identify risk factors for high risk pregnancies, including the increasing incidence of maternal mortality and morbidity in the US, leading to important changes in clinical practice guidelines, including elimination of ineffective and often costly practices.

2) Sick women get pregnant, and pregnant women get sick. 

When I was having my children 20+ years ago, prevailing medical practice was to avoid any medication exposure, with the exception of prenatal vitamins, unless absolutely critical. However, since then it has been increasingly recognized that many illnesses and diseases carry a significant risk to both the mother and fetus when left untreated and need to be effectively managed during pregnancy. Availability of robust information on the safe and effective use of medicines during pregnancy and lactation is generally lacking, and clinical information is needed to inform clinicians regarding appropriate medication use.

While the briefing was primarily focused on the need for clinical research to support clinical practice guidelines for high risk pregnancies, I was reminded that the same messages certainly apply to birth defects research and prevention. Only through rigorous, multidisciplinary research will we confidently identify risk factors (both genetic and environmental), causes and mechanisms for birth defects and developmental disabilities, with the ultimate goal of prevention.

I have been working in the field of teratology, toxicology and pharmaceutical development for more than 20 years. I was first drawn to birth defects research based on pure fascination with the amazing complexity and orchestration of embryo-fetal development. However, when I joined the Teratology Society as a student, I immediately recognized the strength in the coming together of multidisciplinary expertise with a common goal of understanding and prevention of birth defects. I have remained active in this field and in the Society, even seeking leadership opportunities, with a continued desire to contribute to these activities, build these relationships and to facilitate these interactions to make a difference in the health of mothers and babies.

The importance of a multidisciplinary approach to the understanding and prevention of birth defects is clearly illustrated in several pivotal examples.  Fetal alcohol spectrum disorders (FASD) is an important example where experimental data together with rigorous clinical observations, have collectively contributed to a comprehensive understanding of its pathogenesis. Development of an animal model which demonstrates many of the physical features of fetal alcohol syndrome has provided critical information regarding critical period(s), doses, target cell populations, genetic and molecular pathways, and detailed outcomes. Experimental research continues to contribute new understanding regarding mechanisms, neurobehavioral outcomes, genetic susceptibilities and gene-ethanol interactions, which will ultimately translate to a better understanding of clinical risk factors, management and prevention. Recent advances in research and our understanding of FASD will be highlighted in a special issue of our Society journal Birth Defects Research, forthcoming in 2019.

Another example is the recognition of folic acid’s critical role in development, as well as the demonstration of folic acid’s ability to prevent neural tube defects and other congenital anomalies. These discoveries emerged from both experimental and epidemiological studies and has led to policies requiring standard fortification of food in multiple countries. The role of folate and other nutrients in normal and abnormal development, as well as in prevention of birth defects remains a very active area of research. Notably, emerging data on perinatal choline supplementation and neurodevelopmental disorders will be presented in a symposium at the 2019 Teratology Society Annual Meeting.

The Teratology Society, as a multidisciplinary scientific organization is strongly positioned to identify emerging issues and to develop collaborative, translational research strategies to address them.

To leverage the multidisciplinary strength of the Teratology Society, the first annual Multidisciplinary Research Needs Workshop was held at the 2018 Annual Meeting. Participants discussed four emerging issues with research gaps that could benefit from multidisciplinary research. Details and recommendations from the workshop will be issued in a forthcoming workshop summary. Topics and key messages are briefly summarized below:

The Role of Epigenetics in Developmental Origins of Disease

  • How the environment (exposures) can influence imprinting preconception and during development.
  • The role of obesity and metabolic disease in adverse pregnancy outcomes such as small for gestational age and large for gestational age, and long term outcomes
  • Effect of diet on normal development both in pregnancy and before pregnancy. Consider that it could exert a protective as well as negative influence on the offspring.
  • The need for biomarkers that can be linked to epigenetic markers/changes.

Lactational Exposure and Risk

  • The benefits of breast-feeding to both mother and child are widely recognized, but because of the lack of data most drug labels indicate that they should not be used during breast-feeding, or that the mother should not breastfeed when taking the drug.
  • Lactational exposures are often ignored; to address this requires cultural shifts and communication
  • With regard to exposure, milk assays should be performed routinely, and innovative approaches and/or incentives to obtain samples are needed. With regard to risk to the nursing infant, data are needed to understand “dose”, exposure, and potential adverse effects. Based on significant differences in physiology and milk composition, animal data are generally not considered very useful in evaluating secretion of medications and chemicals in milk.
  • Finally, there is an emerging need to examine long term outcomes of lactational exposures.


  • Neonatal abstinence syndrome (NAS). As misuse and abuse of opioids is increasing in the US, NAS is expected to be an ongoing problem. Diagnosis and management, including development of tools and training of caregivers is a critical need.
  • Opioid-induced neural tube defects (NTD). Research is needed to better understand the potential link of opioids to neural tube defects, including mechanistic studies to delineate whether neural tube defects related to opioids are due to maternal toxicity (e.g., respiratory depression) or direct effects on the embryo.

Emerging Technologies

  • New technologies, including high throughput “omics”, microphysiological systems, modeling, computational and in silico tools are advancing rapidly. These technologies present tremendous opportunity to interrogate pathways/mechanisms of embryonic development and birth defects in powerful new ways.
  • These new technologies generate big data. Database management, integration and access will continue to be a challenge in dealing with these data sets.
  • The application of these technologies in developmental and birth defects research presents a need for skill sets (and the integration of skill sets) to tackle emerging issues not historically linked with our field, including statistics, informatics, computer science, engineering and math, in addition to developmental biology, epidemiology, chemistry and toxicology. This presents a critical need for training and recruitment in these disciplines and emphasizes the importance of multidisciplinary teams.


An additional break-out was held to brainstorm on other topics not previously identified.

  • There is a critical need to integrate data sources, such as birth defect registries, clinical data, and large databases relating to exposures to better allow for cross-referencing information to identify emerging links or trends.

The level of engagement and outcomes of these discussions underscore the benefit of a multidisciplinary forum for identifying and addressing emerging needs in birth defects research. Successes have been realized when all interested and dedicated parties work together.  Annual gatherings like the research needs workshop at the Teratology Society meeting can facilitate these discussions and the advancement of research towards understanding and prevention of birth defects. I hope you will join me for the next Teratology Society Annual Meeting in June 2019.   

About the Author

Dana Shuey, PhD, DABT, is the Executive Director of Toxicology at Incyte, a biopharmaceutical company, and current President of the Teratology Society.

About the Teratology Society

To understand and prevent birth defects and disorders of developmental and reproductive origin, the Teratology Society promotes multi-disciplinary research and exchange of ideas; communicates information to health professionals, decision-makers, and the public; and provides education and training.

Scientists interested in or already involved in research related to topics mentioned in this blog are encouraged to join the Teratology Society and attend the 59th Annual Meeting June 22 – 26, 2019, the premier source for cutting-edge research and authoritative information related to birth defects and developmentally-mediated disorders. Teratology Society members include researchers specializing in cell and molecular biology, developmental biology and toxicology, reproduction and endocrinology, epidemiology, nutritional biochemistry, and genetics, as well as the clinical disciplines of prenatal medicine, pediatrics, obstetrics, neonatology, medical genetics, and teratogen risk counseling. In addition, the Teratology Society publishes the scientific journal, Birth Defects Research.  Learn more at Find the Teratology Society on LinkedIn, Facebook, and Twitter



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