Screening for Critical Congenital Heart Defects

Congenital heart defects (CHDs) account for 24% of infant deaths due to birth defects.¹ In the United States, about 4,800 (or 11.6 per 10,000) babies born every year have one of seven critical congenital heart defects (CCHDs, which also are known collectively in some instances as critical congenital heart disease).^{[adapted from 2]} These seven CCHDs 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. Babies with one of these CCHDs are at significant risk of disability or death if their CCHD is not diagnosed soon after birth. These seven CCHDs among some babies potentially can be detected using pulse oximetry screening, which is a test to determine the amount of oxygen in the blood and pulse rate. Other heart defects can be just as severe as these seven CCHDs 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 CCHDs.

 

Screening for Critical Congenital Heart Defects
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The Importance of Screening for Critical Congenital Heart Defects

Some babies born with a heart defect can appear healthy at first and can be sent home with their families before their heart defect is detected. It is estimated that at least 280 infants with an unrecognized CCHD are discharged each year from newborn nurseries in the United States.^{[adapted from 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.

Read HHS Secretary Sebelius’ letter on adding CCHD to the Recommended Uniform Screening Panel

More information on how CDC already tracks CHDs »

 

Podcasts

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.

"A Minute of Health with CDC"
[Listen] [View Transcript]

"A Cup of Health with CDC"
[Listen] [View Transcript]

 

Webinars

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.

 

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 Critical Congenital Heart Defects In the US, about 4,800 (or 11.6 per 10,000) babies born each year have one of seven critical congenital heart defects (CCHDs). Learn more about how CCHD screening potentially can identify these babies soon after birth.

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]

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]

Children's National Medical Center's Congenital Heart Disease Screening Program: Watch videos about CCHD screening.

 

 

References

1. Xu J, Kochanek KD, Murphy SL, Tejada-Vera B. Deaths: Final data for 2007. National Vital Statistics Reports. 2010;58(19). Hyattsville, MD:  National Center for Health Statistics. [Read article]
2. 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]
3. 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]