Screening Newborns for Congenital Heart Disease

January 3, 2013

Luke Bruns, MD, pediatric cardiologist

ST. LOUIS - When a baby arrives in this world, the last thing a parent wants to hear is there may be a medical problem. In many cases, however, the earlier a problem is diagnosed the better the treatment options and outcome.

Soon after birth, babies are routinely tested for many treatable conditions, where the outcome is better if a disease is identified early.  This now includes screening for congenital heart disease to help ensure a healthy heart from the start. Congenital heart disease occurs in approximately eight of every 1,000 births. These babies have structural defects of the heart. Two of the eight diagnosed with congenital heart disease will have what is called "critical" congenital heart disease – meaning it will cause a life-threatening situation for the newborn during the first few days or first month of life.

Because of the unique transition from fetal to newborn circulation immediately after birth, the newborn physical examination is often not able to identify critical congenital heart disease. During the first 48 hours of life, these babies may have no physical signs of any problem and have only mild hypoxia (low oxygen) with no visible cyanosis (blueness).

In the newborn nursery setting, pulse-oximetry screening is a simple, quick and painless measurement that has been shown to be an effective screening tool. A pulse-oximetry machine measures a baby’s blood oxygen saturation level noninvasively by simply putting an infrared light probe onto a baby's hand or foot for a few minutes. These machines are widely available and inexpensive to use.

Studies have shown that most critical congenital heart disease lesions will be detected using pulse-oximetry screening between 24 and 48 hours of life followed by appropriate diagnostic testing, which includes a pediatric echocardiogram. Without early intervention with a surgical or a catheter-based procedure, babies with certain forms of critical congenital heart disease cannot survive.

Newborn pulse-oximetry screening became a national standard recommended by the U.S. Department of Health and Human Services in September of 2011. In January 2012, Mercy Children's Hospital began its newborn pulse-oximetry screening program. Every newborn at Mercy must pass the screening protocol at 24-48 hours of age, as designed by the Mercy Pediatric Cardiology and Neonatology groups, in accordance with recommended guidelines from the American Heart Association and American Academy of Pediatrics. 

If a baby does not pass the screen, an automatic protocol for further evaluation by the Neonatology and/or Pediatric Cardiology teams is set into motion in order to ensure a complete and prompt evaluation for critical congenital heart disease. 

The consequences of missing critical congenital heart disease in the newborn are very serious and can be fatal. This is despite effective treatment options that have improved dramatically over the last 25 years.

Through early screening and intervention, congenital heart disease can usually be treated successfully.

Luke A. Bruns, MD, FACC, FAAP, is a Mercy Clinic pediatric cardiologist with Mercy Children’s Hospital. For more information, please visit


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