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National Birth Defects Prevention Study

On the national level, the Arkansas Center is a participant in the National Birth Defects Prevention Study (NBDPS) that is sponsored by the Centers for Disease Control and Prevention.

The NBDPS is a population based, case-control study of environmental and genetic risk factors for major birth defects. Annually, each of the participating Centers for Birth Defects Research and Prevention contributes 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 are 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 is 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.

Click here to view the CDC Centers Fact Sheet

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 National Institute of Child Health and Human Development. 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 Hospital research Institute (ACHRI) 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 will examine data on infants with heart defects identified by the National Birth Defects Prevention Study (NBDPS).

Recurrent NTD Prevention Program

This educational program targets families affected by a neural tube defect.  The purpose of this program is to provide information on the adequate amount of folic acid women should consume prior to their next pregnancy to prevent recurrent NTD.

 

 

 

 

Arkansas Center for Birth Defects Research and Prevention
13 Children's Way, Mail Slot 512-40
Little Rock, Arkansas 72202
1-877-662-4567 toll free

ACH.ARCenter@uams.edu

 

 

 

 

 

 

 

 

 

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