Genomics|Update|Current ► Congenital Heart Defects: Genetics & Newborn Screening

Genomics|Update|Current

Congenital Heart Defects: Genetics & Newborn Screening

CDC information: Congenital heart defects are conditions that are present at birth and can affect the structure of a baby's heart and the way it works. They are the most common type of birth defect.

Congenital heart defects across the lifespan

CDC information: Causes of congenital heart defectsinclude changes in genes or chromosomes, or also a combination of genes and other risk factors, such as exposures to things in the environment, maternal diet, or maternal medication use.

Did you know? 327 genes have been reported in relation to risk of congenital heart defects, including 7 genomewide association studies. To find out more, visit the HuGE Navigator

What is critical congenital heart disease? From the NIH Genetics Home Reference

Find out which genetic conditions and tests are related to congenital heart defects - from the NIH Genetic Testing Registry

CDC information: Newborn Screening for Critical Congenital Heart Defects (CCHDs) - Without screening, some newborns with CCHDs might be missed since signs may not be evident before an infant is discharged from the hospital after birth. Infants with CCHDs are at risk for significant morbidity or mortality early in life.