 |
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, please see the following Pediatrics
supplement article:
Utility of Family History Reports of Major Birth Defects as a Public
Health Strategy
[Return to Top]
Date:
September 06, 2007
Content source: National Center on Birth Defects and Developmental
Disabilities
|
|
|
