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  • October 25, 2014

The Doctor is In: Newborn Screening for Congenital Heart Disease - Ladue News: Kids & Parenting

The Doctor is In: Newborn Screening for Congenital Heart Disease

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Posted: Thursday, June 27, 2013 12:00 pm | Updated: 12:44 pm, Fri Jun 28, 2013.

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 inherited, treatable conditions, including metabolic diseases and inborn errors of metabolism. The American Academy of Pediatrics also has issued guidelines on screening all newborns for congenital heart disease, helping to assure a healthy heart from the start. My colleague, Dr. Luke Bruns, is medical director of the Children’s Heart Center at Mercy Children’s Hospital. Dr. Bruns has put together some important information about the new screening:

Congenital heart disease occurs in approximately eight of every 1,000 births. These babies have structural defects of the heart. Two of the eight babies 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 often is 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 an effective screening tool. A pulse-oximetry machine measures a baby’s blood oxygen saturation level non-invasively by putting an infrared light probe onto the baby's hand or foot for a few minutes.

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. With early detection, made possible by this simple screening technique, lives can be saved.

Newborn pulse-oximetry screening became a national standard recommended by the U.S. Department of Health and Human Services in September 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 to 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 doesn’t pass the screen, an automatic protocol for further evaluation by the neonatology and/or pediatric cardiology teams is set into motion to ensure a complete, prompt evaluation for critical congenital heart disease.

Despite effective treatment options that have improved dramatically in the last 25 years, the consequences of missing critical congenital heart disease in a newborn are very serious and can be fatal. Through early screening and intervention, however, congenital heart disease can usually be treated successfully.

Dr. Joseph Kahn is president of Mercy Children’s Hospital Services and Dr. Luke Bruns, is a Mercy Clinic pediatric cardiologist with Mercy Children’s Hospital. For more information, visit mercychildrens.net.

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