National and Local Research Projects
- Birth Defects Study to Evaluate Pregnancy ExposureS (BD-STEPS)
- BD-STEPS: Stillbirth Study
- Congenital Heart Survey to Recognize Outcomes, Needs and well-beinG (CH Strong) Study
- Genetic Overlap between Anomalies and Cancer in Kids Study (GOBACK)
- National Birth Defects Prevention Study (NBDPS)
- Genetic & Metabolic Determinants of Congenital Heart Defect Risk
- Recurrent NTD Prevention Program
BD-STEPS is the most recent endeavor for the Centers of Birth Defects Research and Prevention (CBDRP) to understand the causes of birth defects. The Arkansas Center is one of seven centers that is participating in this Centers for Disease Control and Prevention-funded study. The primary source of information for BD-STEPS are interviews of women who have had a pregnancy with a birth defect, as well as mothers of babies who do not have a birth defect.
The overall goal of this study is to provide researchers with more knowledge about the risk factors that might raise or lower the risk of having a baby with a birth defect. Some of the risk factors that this study focuses on include:
- Diabetes, obesity, and physical activity
- Treatments for chronic (long-term) medical conditions
- Treatments for infertility
- Other medication use during pregnancy
- Maternal infections
In collaboration with Centers for Disease Control and Prevention, two centers were funded to expand their current activities to include stillbirths without birth defects. Women who participate in the stillbirth study will participate in the main BD-STEPS interview and then the stillbirth supplemental interview that will focus on the second and third trimesters of pregnancy. This goal of this study is to identify novel modifiable pregnancy exposures that decrease the occurrence of stillbirths, with a particular focus on maternal medication use, maternal sleep position and maternal perception of decreased fetal movement
Congenital heart defects (CHDs) are the most common type of structural birth defects, affecting approximately 1 in 110 live born children. In prior decades many CHDs were considered fatal dying infancy or childhood, but with tremendous advances in pediatric cardiology and cardiac surgery at least 85% of patients now survive to adulthood. However, little is known about other long term medical outcomes and quality of life issues of these adults. The Arkansas Center is one of two sites collaborating on this Centers for Disease Control and Prevention sponsored project. Both Centers will enroll persons ages 18-35 who were born with a CHD and identified by their state’s birth defects surveillance system at birth. Persons living with a CHD are invited to participate in a brief survey. This study is sponsored by CDC and will be done in collaboration with March of Dimes.
One of the strongest risk factors for childhood cancer is being born with a congenital malformation. Epidemiologic investigations have indicated that cancer risk is greater among those with major malformations (e.g., spina bifida), as well as among those with relatively minor malformations (e.g., asymmetric limbs), yet the underlying reason for these consistently observed associations remains unknown. Exploring the intersection of birth defects and childhood cancer is likely to provide valuable insights into what causes childhood cancer, and may also provide information that can be translated into screening strategies for those children at the greatest risk of developing cancer. The Arkansas Center along with 5 other sites examining children born 1997-2013. Families of children that have been diagnosed with cancer and a birth defect are recruited into the family-based cohort.
The Arkansas Center participated in the National Birth Defects Prevention Study (NBDPS) that was sponsored by the Centers for Disease Control and Prevention (CDC). Data collection for this study ended in March 2013, but analysis of the information collected in this study is ongoing.
The NBDPS is a population-based, case-control study of environmental and genetic risk factors for major birth defects. Each of the participating Centers for Birth Defects Research and Prevention contributed 300 interviews with mothers of children with major structural birth defects and 100 interviews with mothers of children without birth defects. Following the maternal interview, DNA samples were collected from the mother, the infant, and the infant’s father to allow genotyping and identification of genetic risk factors.
The major goal of the NBDPS was to provide information that will:
- increase the understanding of birth defects causes
- prevent many birth defects from occurring in the future
The NBDPS is one of the largest case-control studies ever conducted on the causes of birth defects.
Genetic & Metabolic Determinants of Congenital Heart Defect Risk
Congenital heart defects (CHDs) are the most prevalent and serious of all recognized birth defects, occurring in 8-10 of every 1,000 live births in the US. More than 85% are thought to result from a complex interplay among maternal lifestyle factors, genetic susceptibilities, and metabolic phenotypes. Although CHDs clearly pose a significant public health problem, clinical and public health efforts designed to prevent most CHDs do not exist. Researchers at the Arkansas Center are dedicated to understanding the causes of CHDs with the longer-term goal of preventing or at least significantly reducing CHDs based on preconception genetic and metabolic screening.
In 2006, the Arkansas Center received a $3.0 million competitive renewal from the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health (NIH). These resources allow Charlotte Hobbs, MD, PhD, the Principal Investigator and her colleagues to use state-of-the art technologies to identify causes of genetic susceptibilities, metabolic determinants and lifestyle factors. The research team will identify genetic and metabolic markers identify women who are at increased risk of having a pregnancy / fetus affected by a congenital heart defect. By discovering life-style factors, genetic variants and metabolic markers that may lead to congenital heart defects, primary prevention methods may be developed.
Maternal Smoking: DNA Repair Polymorphisms and the Risk of Septal Heart Defects
In 2008, the National Institutes of Health awarded a $648,000 grant to Arkansas Children’s Research Institute (ACRI) for Sadia Malik, MD, MPH (Principal Investigator) and her colleagues at the Arkansas Center to investigate underlying genetic risks associated with septal heart defects. Malik, a cardiologist at ACH and an associate professor of Pediatrics at the University of Arkansas for Medical Sciences (UAMS) College of Medicine, has been studying the connection between a mother’s smoking habit and her baby’s risk of heart defects for several years. Her latest study, funded by NIH, will look at how specific genetic polymorphisms increase the risk of these types of defects among babies whose mothers smoked while they were pregnant. Malik will employ new genomic tools provided by the Human Genome Project and the International HapMap Project. She also examined data on infants with heart defects identified by the National Birth Defects Prevention Study (NBDPS).