In honor of January being National Birth Defects Awareness Month, DHEC’s Vinita Oberoi Leedom, SC Birth Defects Program (SCBDP) Manager, recently had the opportunity to talk to one of the leading experts on the matter, Dr. Sonja Rasmussen.
Dr. Rasmussen works with the DHEC’s SC Birth Defects Program as the clinical geneticist providing surveillance support including assistance with case classification. She is a board-certified physician in pediatrics and genetics based out of the University of Florida (UF).
Prior to her work as a clinician and researcher at UF, she worked at the CDC for over 20 years in roles such as Editor-in-Chief of CDC’s Morbidity and Mortality Weekly Report (MMWR), Deputy Director for Infectious Diseases, and Senior Scientist at the National Center for Birth Defects and Developmental Disabilities at CDC.
Dr. Rasmussen has published over 270 peer-reviewed journal articles in various areas of maternal and child health and infectious diseases. In 2016, Dr. Rasmussen served as the lead author on the seminal paper establishing causality between Zika Virus disease during pregnancy and birth defects in infants.
Raising Awareness About Birth Defects
Vinita: What are birth defects, and why should people care about them?
Dr. Rasmussen: Birth defects are changes in the structure or function of a baby that are present at birth. These can affect any part of the body (e.g., heart, brain, or face) and range in severity from mild to severe.
Birth defects are important because they are common – birth defects affect about 3% of babies in the United States – and because they have a significant impact on the lives of the child with birth defects and his or her family. In some cases, surgery can be done early in a child’s life, but in many children, the effects of the birth defect are lifelong.
Despite medical advances, birth defects continue to be a leading cause of infant mortality.
Vinita: What made you interested in researching birth defects?
Dr. Rasmussen: My younger brother Mark was born with Down syndrome (see his story here). This stimulated my interest early on in causes of birth defects and on how to best advocate for children and adults with these conditions so they are able to lead healthy and productive lives. I saw first-hand how someone with a condition like Down syndrome could have a great life if provided the right medical treatments as well as educational and social opportunities.
Vinita: Tell us about the time you worked with the Zika virus and you helped discover that it causes birth defects. How did you figure that out? How did that discovery impact public health?
Dr. Rasmussen: I was working at CDC at the time. We initially heard from colleagues in Brazil that the number of babies born with microcephaly had skyrocketed. The hypothesis was that this was related to a recent outbreak of Zika virus disease in the country.
Over the next few months, a group of us at CDC used data from many basic science, epidemiological, and clinical studies that were emerging from researchers around the world to piece together the evidence that Zika virus was the cause of the defects being seen. We then submitted the paper to the New England Journal of Medicine where it was published online on April 13, 2016.
CDC and other public health groups had been distributing prevention messages widely even before our paper was published. For example, we had been recommending that pregnant persons avoid travel to areas with Zika virus transmission for months, since we thought that Zika virus was probably the cause of these birth defects.
However, the messages were less clear when they included a caveat — that we weren’t sure. Providing evidence for Zika virus as the cause that was well accepted by the medical community allowed for us to share more direct and effective prevention messages.
Vinita: What do state programs do in the area of birth defects?
Dr. Rasmussen: State birth defects surveillance programs are essential to the understanding of birth defects in the United States because there is no nationwide birth defects surveillance program. That means that information on how frequent certain birth defects are – information that is critical for ensuring that services needed are available for children – comes from these state programs.
Information on the success of birth defects prevention efforts also comes from state programs; for example, the data we have that showed that fortification of flour with folic acid reduced the number of pregnancies affected by a neural tube defect (e.g., spina bifida or anencephaly) by over 1,300 babies a year came from state programs. State programs are also needed for research into causes of birth defects and how birth defects affect the lives of children (e.g., studies of survival of children with different types of birth defects have often used data from state programs).
Finally, state birth defects programs are often used as a source to be sure that children have been referred to critical services, such as early intervention programs.
I feel fortunate to work with the South Carolina Birth Defects Program (SCBDP). A recent evaluation by the CDC demonstrated that the information on birth defects collected by the SCBDP is timely, complete, and accurate. This data is being used to improve the lives of children with birth defects in South Carolina and their families.
Because of the quality of data collected by the SCBDP, South Carolina is one of ten population-based state programs funded by the CDC. In addition, CDC has recently provided funding to the SCBDP to collect data to better understand the effects of congenital heart defects across the lifespan.
Vinita: Where should public health and policy makers focus their time and attention to ensure that people impacted by birth defects are supported?
Dr. Rasmussen: We need to continue to be sure that we have the data we need to identify new factors that increase or decrease the risks for having a baby with a birth defect. We need to continue to understand what treatments, early intervention, and other services make a difference in the lives of persons with these conditions. And we need to tackle the racial-ethnic disparities we see in the care of persons with birth defects – all persons deserve to be offered the opportunity for a fulfilling life.
That means making sure state birth defects programs are supported. And we need to be sure the next generation of birth defects researchers are receiving the training they need so they can lead us to a better future for persons with birth defects and their families.