National Birth Defects Prevention Study

The National Birth Defects Prevention Study (NBDPS) is the largest effort in the U.S. to collect information on risk factors for birth defects.

This large research project is sponsored by the Centers for Disease Control and Prevention, an agency of the federal government, and is a joint effort by birth defects centers in 10 states: Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah. The researchers in the study are looking for the causes of birth defects. Because birth defects are so varied and each type is relatively rare, it has been difficult to find enough cases of any one kind for researchers to study. By combining cases from all ten centers, researchers will have more cases to work with.

The data collected through the NBDPS will offer an unprecedented opportunity to study the role of gene-environment interactions that may cause birth defects. Certain genes may make a developing fetus more susceptible to environmental exposures that result in birth defects. Study participants are asked to provide biologic samples in the form of cheek cell swabs so that researchers may look at genetic factors.

Research group

The MA Center works with several local research groups on this project:

• Slone Epidemiology Center at Boston University
• Active Malformations Surveillance Program at Brigham and Women's Hospital
• Genetics and Teratology Unit at Massachusetts General Hospital

Study design

1. Surveillance data is collected on babies born with approximately 35 defects.
2. The mothers of these babies, interviewed by telephone, provide information about environmental exposures, medications, illnesses, pregnancy events, stresses, etc.
3. Biologic samples (cheek cells) are collected from mother, father and baby to provide samples of DNA.
4. Data from MA is combined with that collected from the nine other centers.
5. Research is conducted, looking for clues to the causes of individual birth defects.

In addition to participating in the National Birth Defects Prevention Study (NBDPS), the Massachusetts Center is conducting other research projects and activities, including the following:

• Studying the association of over-the-counter medications and birth defects;
• Studying the association of anti-epileptic drugs and birth defects;
• Examining the association of socioeconomic status and birth defects;
• Evaluating the risk for birth defects among infants of diabetic mothers;
• Studying the relationship between substances involved in folic acid metabolism and neural tube defects;
• Developing methods of birth defect classification and surveillance.