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Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Routine collection of family history of major birth defects in pediatric practice holds promise as a public health strategy to reduce the burden of disease, death, and disability associated with these defects. To examine the utility of family history reports of major birth defects as a public health strategy, researchers reviewed whether birth defects met six criteria: 1) contributes to a substantial public health burden; 2) has a well-defined case definition; 3) causes awareness among relatives; 4) is accurately reported by family members; 5) has family history as a known risk factor; and 6) has existing and effective interventions for prevention.

  • Major birth defects are abnormalities that can affect the structure or function of an organ. Most birth defects are caused by a mix of genetic and environmental factors.

  • They pose a substantial public health burden. In the United States, major birth defects affect an estimated 3% of live births. They are the leading cause of infant death and greatly affect childhood health and disability.

  • Detailed case definitions exist for individual major birth defects. In clinical practice, these defects are documented by using the World Health Organization’s International Classification of Diseases, 9th Revision, Clinical Modification.

  • Family history of selected major defects has been shown to be an independent risk factor for such defects. Affected parents have a higher risk than unaffected parents of having a child with the same defect. Parents with one or more affected children also have a higher risk of having another child with that defect.

  • Many approaches exist for reducing the occurrence of major birth defects. These include avoiding select medications during pregnancy, vaccinating against infectious diseases, quitting smoking, and ending alcohol use. Folic acid consumption is perhaps the most notable prevention strategy.

  • Having a complete family history of major birth defects enables a clinician to better assess risk and inform reproductive planning. Knowledge about increased risk can also move patients to adopt healthy behaviors.

  • Awareness among relatives of a diagnosis of a major defect varies by type of defect and by maternal demographics. Likewise, accuracy of reporting about the defects varies. Sensitivity of mothers’ reports of major defects is much higher for her children than for other relatives.

  • Before implementing a routine family history tool for major birth defects in pediatric practice, further research is needed to find the best ways to collect birth defect reports, evaluate the accuracy of the information, and assess how knowledge about birth defect diagnosis and related risk factors is shared among relatives.

For More Information

For more information, please see the following Pediatrics supplement article:
Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

 

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