Critical congenital heart disease (CCHD) refers to a group of life-threatening structural cardiac defects that are present at birth. These abnormalities result from malformation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygenated blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. CCHDs account for nearly 30 percent of infant deaths due to birth defects and, out of these, 3 percent of infants die in the first year of life. The seven heart defects included in CCHD screening are hypoplastic left heart syndrome, pulmonary atresia (with intact septum), tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia and truncus arteriosus. The incidence of CCHD is 18 per 10,000 births per year.
CCHD can be detected using pulse oximetry screening. Newborns with cardiac defects can appear healthy at birth, but can deteriorate rapidly or die. These newborns are at risk of having serious complications within the first few days or weeks of life and often require emergency care and surgery.
Public Act 098-0440 was signed in law in August 2013 mandating all Illinois birthing facilities to screen newborns for CCHD after 24 hours of life using pulse oximetry screening.