Screening for Critical Congenital Heart Defects
Congenital heart defects (CHDs) account for nearly 30% of infant deaths due to birth defects.1 In the United States, about 7,200 (or 18 per 10,000) babies born every year have critical congenital heart defects (CCHDs, which also are known as critical congenital heart disease).2 These CCHDs are coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia (intact septum), single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus. Babies with CCHDs usually require surgery or catheter intervention in the first year of life. CCHDs can potentially be detected using pulse oximetry screening, which is a test to determine the amount of oxygen in the blood and pulse rate. Pulse oximetry screening is most likely to detect seven of the CCHDs. These seven main screening targets 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. Other heart defects can be just as severe as the main screening targets and also require treatment soon after birth. However, pulse oximetry screening may not detect these heart defects as consistently as the seven disorders listed as the main screening targets.
Screening Newborns for Critical Congenital Heart Disease
Watch this Medscape video to learn what primary care providers should know about newborn screening for critical congenital heart defects.
The Importance of Screening for Critical Congenital Heart Defects
Some babies born with a heart defect appear healthy at first and can be sent home with their families before their heart defect is detected. It is estimated that about 300 infants with an unrecognized CCHD are discharged each year from newborn nurseries in the United States.3 These babies are at risk of having serious complications within the first few days or weeks of life and often require emergency care.
Newborn screening using pulse oximetry can identify some infants with a CCHD before they show signs of a CCHD. Once identified, babies with a CCHD can be seen by cardiologists and can receive specialized care and treatment that can prevent disability and death early in life. Treatment can include medications and surgery.
When and How Babies Are Screened
Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby’s blood and the baby’s pulse rate. Low levels of oxygen in the blood can be a sign of a CCHD. The test is done using a machine called a pulse oximeter, with sensors placed on the baby’s skin. The test is painless and takes only a few minutes. Screening is done when a baby is 24 to 48 hours of age, or as late as possible if the baby is to be discharged from the hospital before he or she is 24 hours of age.
Pulse oximetry screening does not replace a complete history and physical examination, which sometimes can detect a CCHD before the development of low levels of oxygen in the blood. Pulse oximetry screening, therefore, should be used along with the physical examination.
CCHD Screening Results
If the results are “negative” ("pass" or in-range result), it means that the baby’s test results did not show signs of a CCHD. This type of screening test does not detect all CCHDs, so it is possible for a baby with a negative screening result to still have a CCHD or other congenital heart defect. If the results are “positive” ("fail" or out-of-range result), it means that the baby’s test results showed low levels of oxygen in the blood, which can be a sign of a CCHD. This does not always mean that the baby has a CCHD. It just means that more testing is needed.
The baby’s doctor might recommend that the infant get screened again or have more specific tests, like an echocardiogram (an ultrasound picture of the heart), to diagnose a CCHD. Babies who are found to have a CCHD also might be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with CCHDs and inform families about future risks.
Centers for Disease Control and Prevention Activities
The Centers for Disease Control and Prevention (CDC) is part of the U.S. Department of Health and Human Services (HHS) Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). SACHDNC was authorized by Congress to provide guidance to the HHS Secretary about which conditions should be included in newborn and childhood screening programs, as well as how systems should be developed to ensure that all newborns and children are screened and, when necessary, receive appropriate follow-up care. SACHDNC recommended that the HHS Secretary add screening for CCHDs (i.e., the heart defects listed previously) to the Recommended Uniform Screening Panel. In September 2011, HHS Secretary Sebelius approved adding CCHD to the Recommended Uniform Screening Panel and outlined specific tasks assigned to NIH, CDC, and HRSA.
Morbidity and Mortality Weekly Report (MMWR) Podcasts on Healthy Little Hearts. Listen to learn more about maternal risk factors for having a baby with a heart defect and simple precautions women can take before and during pregnancy to decrease their chance of having a baby with a heart defect.
Watch the following webinars to learn more about CCHD screening:
- CCHD Screening: An Overview for Moving Forward [PowerPoint Slides]
- Newborn Screening Recommendations for Critical Congenital Heart Disease (CCHD): Implications for State Programs
- The Early Identification of Congenital Heart Disease: Information for Primary Care Providers
Related Articles and Information
Disclaimer: Linking to a non-federal site does not constitute an endorsement by CDC, HHS, or any of its employees of the sponsors or the information and products presented on the site.
Centers for Disease Control and Prevention. Rapid Implementation of Statewide Mandate for Pulse Oximetry Newborn Screening to Detect Critical Congenital Heart Defects—New Jersey, 2011. MMWR 2013; 62:292-294. [Read article] [Read key findings]
Centers for Disease Control and Prevention. Assessment of Current Practices and Feasibility of Routine Screening for Critical Congenital Heart Defects - Georgia, 2012. MMWR 2013; 62:288-91. [Read article] [Read key findings]
Centers for Disease Control and Prevention. "Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010-2011." MMWR 2012; 61: 849-853. [Read article] [Read key findings]
Information for Healthcare Professionals about Screening for Critical Congenital Heart Defects: Learn more about how newborn screening can identify some newborns with critical congenital heart defects.
CDC Feature on Screening for Heart Defects: A Mother’s Story In the US, about 1 in every 100 babies is born with a congenital heart defect. About 25% of these heart defects are critical congenital heart defects. Read one mother’s story about her son’s critical congenital heart defect.
American Academy of Pediatrics: Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease [Read article]
Centers for Disease Control and Prevention. Racial differences by gestational age in neonatal deaths attributable to congenital heart defects --- United States, 2003-2006. MMWR Morb Mortal Wkly Rep. 2010;59:1208-1211. [Read article]
Chang, RK, Gurvitz, M, Rodriguez S. Missed diagnosis of critical congenital heart disease. Arch Pediatr Adolesc Med. 2008;162:969-974. [Read article]
Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Lloyd-Puryear M, Howell RR. Strategies for Implementing Screening for Critical Congenital Heart Disease. Pediatrics. 2011; 128:e1-e8. [Read article]
CBS News Early Show interview with Alex Kemper
Knapp, AA, Metterville, DR, Kemper, AR, Prosser, L, Perrin, JM. Evidence review: Critical congenital cyanotic heart disease, Final Draft, September 3, 2010. Prepared for the Maternal and Child Health Bureau, Health Resources and Services Administration. [Read article]
Mahle, WT, Newburger, JW, Matherne, GP, Smith, FC, Hoke, TR, Koppel, R, Gidding, SS, Beekman, RH, 3rd, Grosse, SD. Role of pulse oximetry in examining newborns for congenital heart disease: A scientific statement from the AHA and AAP. Pediatrics. 2009;124:823-836. [Read article]
Mai CT, Riehle-Colarusso T, O'Halloran A, Cragan JD, et al. Selected Birth Defects Data from Population-based Birth Defects Surveillance Programs in the United States, 2005-2009: Featuring Critical Congenital Heart Defects Targeted for Pulse Oximetry Screening. Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94: 970-983. [Read summary] [Read key findings]
Olney RS, Botto LD. Newborn Screening for Critical Congenital Heart Disease: Essential Public Health Roles for Birth Defects Monitoring Programs. Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94: 965-969. [Read summary] [Read key findings]
Reller, MD, Strickland, MJ, Riehle-Colarusso, TJ, Mahle, WT, Correa, A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr. 2008;153:807-813. [Read article]
Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012; 379:2459-2464. [Read article]
Children's National Medical Center's Congenital Heart Disease Screening Program: Watch videos about CCHD screening.
- Broussard CS, Gilboa SM, Lee KA, Oster M, Petrini JR, Honein MA. Racial/Ethnic Differences in Infant Mortality Attributable to Birth Defects by Gestational Age. Pediatrics. 2012; 130:e518-27. [Read summary]
- Adapted from Reller, MD, Strickland, MJ, Riehle-Colarusso, TJ, Mahle, WT, Correa, A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr. 2008;153:807-813. [Read article]
- Adapted from Aamir T, Kruse L, Ezeakudo O. Delayed diagnosis of critical congenital cardiovascular malformations (CCVM) and pulse oximetry screening of newborns. Acta Paediatr. 2007;96:1146-1149. [Read summary]
- Centers for Disease Control and Prevention
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