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birth defects the solution is research discoveries and data serving the public visitor type
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birth defects
the solution is research
discoveries and data
serving the public


Interviews with mothers provide valuable information about events in pregnancy, far beyond what is available in the medical record. But it is difficult to recall what happened more than 9 months before: can you remember where you were, what you ate, chemicals you may have encountered or how you were feeling?

Even if memories were precise, they don’t tell the complete story—what was happening inside the body and at the cellular level. Biologic testing is one way to fill these gaps—reconstructing the events of pregnancy more accurately than ever before. Biologic testing can include:

bullet DNA testing. Gene variants—in the child or the mother—may interact with environmental exposures, changing birth defects risks.
bullet Biomarkers. We can look for signs of infection, metabolic changes, dietary factors or other conditions during pregnancy.
bullet Future analysis. Banked specimens will help us take advantage of new scientific and technologic breakthroughs as they occur.


The California Birth Defects Monitoring Program is pioneering the use of specimens from statewide screening programs. Given recent technologic advances, each specimen can be used for hundreds of tests.

bullet Newborn screening. Infants routinely have blood taken from their heels to test for metabolic conditions. Several blood spots are blotted onto a filter paper. Many of our studies have used extra blood spots to search for genetic variants.
bullet Midpregnancy screening. The State’s Expanded AFP program offers a blood test screening for birth defects to all expectant mothers around 15-18 weeks of pregnancy.

Started in January 2003, the California Birth Defects Monitoring Program has 261,000 pregnancy blood samples as of February 2006 and will store blood on about 100,000 pregnant women each year. Once pregnancy outcome is known, we can test the blood to get clues about why some mothers had healthy children while other mothers had children with birth defects and mental retardation. Biologic banking/testing are powerful new tools for finding causes of birth defects.


Do you need permission to test banked samples?

In most cases, personal permission is not required to analyze banked samples. Testing is only done under research protocols approved by the State Institutional Review Board, which includes stringent safeguards to protect human subjects.

Will you notify me about the results of blood tests performed under research protocols?

No. Test results provide scientific rather than medical information—they are unlikely to affect clinical care.

Does testing performed under research protocols tell about paternity?

No. Most testing is of individuals, not family groups, and gives no information about parentage.

Will my identity remain confidential?

Yes. The Program is committed to protecting confidentiality and privacy. We only communicate findings on groups of people, not individuals. We never publish any potentially identifying information.
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