Screening Newborns for Critical Congenital Heart Disease

Matt Oster, MD, MPH


March 18, 2013

Editorial Collaboration

Medscape &

This feature requires the newest version of Flash. You can download it here.

Hello. I am Dr. Matt Oster, a pediatric cardiologist with the Centers for Disease Control and Prevention and Sibley Heart Center at Children's Healthcare of Atlanta.

As part of the CDC Expert Video Commentary Series on Medscape, I'm here to speak with you about what you, as a primary care provider, need to know about newborn screening for critical congenital heart defects.

Critical congenital heart defects (CCHDs; also referred to as "critical congenital heart disease") are the most recent addition to the United States Recommended Uniform Screening Panel for newborns. As more hospitals start screening newborns for CCHDs, you will need to understand what this screening means for your patients.

CCHDs are structural heart defects that often are associated with hypoxemia in infants during the newborn period. Infants with CCHDs require surgery or catheter intervention within the first year of life, often soon after birth. Without treatment, these babies are at risk for significant morbidity or mortality early in life as a result of closure of the ductus arteriosus or other physiologic changes.

Screening for CCHDs is conducted with a pulse oximeter to measure the percentage of hemoglobin in the blood that is saturated with oxygen, with probes placed on the infant's right hand and either foot.

An algorithm, either the algorithm recommended by the American Academy of Pediatrics or a similar one approved by the state or hospital, is then used to determine whether the infant passes, fails, or needs repeat pulse oximetry screening. Screening is performed when the infant is at least 24 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 is most likely to detect 7 of the types of CCHDs. These 7 main screening targets are:

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 other heart defects as consistently as the 7 main screening targets.

A recent systematic review[1] found that pulse oximetry screening for CCHDs has a sensitivity of 76.5% and a specificity of 99.9%. If pulse oximetry is performed later than 24 hours of life, the review found that the false-positive rate is 0.05%.

In your practice, you might encounter patients who have failed their CCHD screening tests. Unless a noncardiac cause can be identified for a failed screen, an infant who fails the screen should have a diagnostic echocardiogram done before being discharged from the nursery to go home. This could involve an echocardiogram within the hospital or birthing center, transport to another institution for the procedure, or the use of telemedicine for remote evaluation.

For patients who failed their CCHD screens:

  • Confirm that the infant had a diagnostic echocardiogram;

  • Make sure that the patient receives appropriate follow-up, such as being seen by a cardiologist; and

  • Facilitate long-term follow-up for patients diagnosed with CCHDs.

For all of your newborn patients:

  • If the birth facility screens for CCHDs, make sure that all of your newborn patients are appropriately screened.

  • If screening is mandated by your state, but your patient was not appropriately screened at the birth facility, develop strategies for screening in your office.

  • If screening is not mandated in your state and your clinic has the equipment and would like to screen your asymptomatic patients who were not screened in their birth facility, you are certainly welcome to do so. However, you should first have a plan in place for what steps to take in the event that one of your patients fails the screening test.

It is important to remember that pulse oximetry screening is just 1 additional tool to detect children with CCHDs. It is not intended to replace taking a complete family health and pregnancy history, and completing a physical examination of the newborn, which sometimes can detect CCHDs before the development of hypoxemia or can detect children whose CCHDs are missed by pulse oximetry.

Realize that pulse oximetry screening does not detect all CCHDs, even all of the 7 main screening targets. A "passed" screen does not rule out the possibility of a CCHD or other heart defect in your patient. For every 3 children detected with a CCHD by screening, 1 child with a CCHD will still be missed.

Continued vigilance is necessary to recognize congenital heart defects if signs or symptoms, such as tachypnea, cyanosis, weak pulses, failure to thrive, extreme sleepiness, or a heart murmur, occur.

Thank you for taking the time to learn more about screening for CCHDs.

Please visit for more information on this topic.

Web Resources

Algorithm for CCHD screening from Children's Healthcare of Atlanta

CDC: Screening for Critical Congenital Heart Defects -- Information for Providers

CDC: Screening for Critical Congenital Heart Defects -- Information for Parents

Dr. Matt Oster is a pediatric cardiologist at Sibley Heart Center Cardiology in the Division of Pediatric Cardiology at Children's Healthcare of Atlanta. He holds Emory University appointments of Assistant Professor of Pediatrics in the School of Medicine and Assistant Professor of Epidemiology in the School of Public Health, as well as an appointment as a medical officer at the CDC's National Center on Birth Defects and Developmental Disabilities. He earned his MD at the University of Pennsylvania School of Medicine and his MPH in epidemiology at Emory University Rollins School of Public Health. He completed residency training in pediatrics at the University of California, San Francisco, and fellowship training in pediatric cardiology at Emory University. As director of the Children's Cardiac Outcomes Research Program at Sibley Heart Center, he helps lead research efforts in the epidemiology of congenital heart disease and outcomes for patients with congenital heart disease.