What is the recurrence risk for congenital heart disease (CHD) with an affected parent?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

The recurrence risk for congenital heart disease (CHD) when there is an affected parent is typically in the range of 4-10%. This risk is based on multiple studies that show a familial clustering of CHD, indicating that the presence of an affected individual, especially a parent, increases the likelihood of similar outcomes in offspring due to both genetic and environmental factors.

In general, the risk for congenital heart defects is higher if one or both parents are affected, compared to the baseline risk in the general population, which is about 1%. The category of 4-10% for recurrence risk reflects an understanding of the polygenic nature of many congenital heart defects, alongside potential environmental influences, making it a significant concern in genetic counseling and family planning.

Understanding these statistics is crucial as it guides healthcare professionals in evaluating family history, counseling at-risk couples, and preparing them for potential screening or interventions during pregnancy.

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