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Newborn Screening for Critical Congenital Heart Disease (CCHD)

Congenital heart disease occurs in 9 of every 1,000 live births. About 25percent of these babies will have critical congenital heart disease (CCHD) whereby surgery or transcatheter intervention is required in the first year of life. In the United States, almost all types of congenital heart defects can be surgically repaired or palliated, and survival rates continue to improve. Early recognition and timely intervention can improve outcomes for these patients. The physical findings consistent with congenital heart disease, such as heart murmurs, tachypnea, or overt cyanosis may not be evident before the newborn is discharged from the hospital. Pulse-oximetry monitoring, a noninvasive method to determine oxygen saturation and identify hypoxemia has been proposed as one strategy for early detection of CCHD.

In August 2009, the American Academy of Pediatrics (AAP) and the American Heart Association (AHA) reviewed the available evidence and published a statement regarding the use of pulse oximetry to detect critical congenital heart disease in newborns. They concluded that it is a viable strategy to improve early detection of CCHD.

In September 2010, the US Health and Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommended that critical congenital cyanotic heart disease be added to the uniform newborn screening panel. Their goal was to identify early in life those newborns with structural heart defects usually associated with hypoxia that could result in significant morbidity or death with closing of the ductus arteriosus or other physiologic changes in the newborn period. An expert technical panel recommended 7 specific lesions as the primary targets for screening: hypoplastic left heart syndrome (HLHS); pulmonary atresia; tetralogy of fallot; total anomalous pulmonary venous return; transposition of the great arteries; tricuspid atresia; and truncus arteriosus.

In January 2011, a work group chosen by the SACHDNC, the AAP, the AHA and the American College of Cardiology Foundation (ACCF) was convened to outline screening implementation strategies. The meeting focused on recommendations for pulse-oximetry screening for CCHD, developing service infrastructure for follow-up and addressing knowledge gaps. The work group recognized that many newborns with the targeted congenital heart defects do not develop "clinically appreciable cyanosis" until after discharge from the hospital. And, with some lesions such as HLHS newborns have significant cardiovascular compromise without apparent cyanosis. Therefore, they recommended that the SACHDNC rename the target conditions "critical congenital heart disease" (CCHD). The word cyanotic was omitted. The work group recommendations for a standardized approach to screening and diagnostic follow-up were published in Pediatrics in November 2011, "Strategies for Implementing Screening for Critical Congenital Heart Disease."

Pulse oximetry cannot detect all cases of CCHD, and parents and caretakers should be advised that a negative test result does not exclude the possibility of heart disease.

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