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Striving to Prevent Birth Defects
Defect Information Defect Information Prevention Services Providers and Members About UBDN

Studies

For most birth defects the cause remains unknown. The only way to discover these unknown causes is to perform research. The following is information about the current research projects that the UBDN is involved in.

Utah Study to Identify Genes that Play a Role in Birth Defects
Birth defects are common, costly, and critical. One in every 33 babies is born with a birth defect. Birth defects can be very mild to life threatening. Utah is in a unique position to begin to unravel the genetic causes of some birth defects because it is a great place to study families. We will find out whether a birth defect appears to cluster in related individuals, and identify large families that contain more birth defects than they should by chance. These large families (known as multigenerational families) may stretch back to a distant ancestor who was born several generations ago.  Utah is the only state in the US that has the ability to study these multigenerational families.

By studying these families we can find out what genes are shared by individuals with birth defects. Such genes could play a role in causing the birth defect. We will start our investigations with a focus on an abdominal wall defect called gastroschisis. We will expand soon to include other birth defects (e.g., spina bifida, omphalocele, etc).

This study is important for several reasons:

  1. it can identify specific genes that play a role in causing a birth defect;
  2. knowledge of these genes can be used, together with existing data collected for the population-based case-control National Birth Defect Prevention Study (NBDPS), to understand how environmental exposures interact to further increase the risk of birth defects; and
  3. knowledge of these genes, their function and environmental risk factors can help us understand the condition better and may provide opportunities for screening and prevention.

Study Brochure (pdf)

Picture of child with Gastroschisis

When my daughter Ashley was born in 2005, gastroschisis was viewed as a "fluke" and a very rare occurrence. I had never heard of this birth defect and certainly didn't know anyone else who had a child with it. After years of working as a patient advocate with families and researchers, I now know hundreds of people affected by gastroschisis in many countries. And I know that it isn't really a "fluke", and it's no longer very rare - today it has quadrupled in incidence in less than a decade. Researchers in Utah think genes play a role in gastroschisis, in addition to unknown environmental factors. This study being conducted by the Utah Birth Defects Network holds the potential to answer the question that we all asked when we found out our child had gastroschisis: "why did this happen to us?" as well as the key to prevention in the future. Participation from affected families is essential to the success of this study. Thank you for  taking part in this research, not only from my daughter and myself but from the international gastroschisis community as a whole. Together we can find the answers." --- Kayte Thomas, MSW, Medical Liaison and Director of Patient Advocacy at Avery's Angels Gastroschisis Foundation. www.averysangels.org

Utah Child and Family Health Study
The Birth Defect Network is currently collaborating with Utah State University to study maternal nutrition and risk of clefting and the genes related to metabolic pathways. This five-year grant, called “Nutrient Biomarkers, Genes, and Orofacial Clefts,” is funded by the National Institute of Child Health and Human Development at the National Institute of Health. For more information please call Amy Nance, Project Coordinator at the Utah Department of Health, toll-free (866) 818-7096. You may also contact Dr. Ron Munger, Project Director at Utah State University, at (435) 797-2122.

Utah Center for Birth Defects Research and Prevention
The Utah Center for Birth Defects Research and Prevention is one of the ten national participants in the National Birth Defects Prevention Study (NBDPS). NBDPS is one of the largest studies ever conducted on the causes of birth defects. It will provide information about environmental and genetic factors that contribute to birth defects. The goal of NBDPS is to increase our understanding of the causes of birth defects and provide information that can be used to prevent many birth defects. The Center is funded by the Centers for Disease Control and Prevention. For more information, please call Amy Nance, Project Coordinator at the Utah Department of Health at 801-257-0566 ext 204 or toll-free (866)-871-1586. You may also contact Marcia Feldkamp, Principal Investigator at the Utah Department of Health at 801-257-0566 ext 203.

The National Birth Defects Research and Prevention website (NBDPS) http://www.cdc.gov/ncbddd/bd/default.htm

Medical costs and quality of life of children with craniofacial anomalies and their families in Utah
The UBDN, in collaboration with the University of Utah, is conducting this study to analyze the medical costs and quality of life of children with craniofacial anomalies, such as cleft lip and cleft palate. The results of this study will increase understanding of the impact of craniofacial anomalies on medical cost and quality of life. The most current data available on this subject was published in 1992.