Panel Proposes National Plan to Screen Newborns for Congenital Heart Disease

A expert panel has laid out a strategy for implementing a national screening program to test all newborns for congenital heart disease, the leading cause of death from birth defects in children younger than 1 year. The panel, whose recommendations were released August 21 online in Pediatrics, said such screening can easily be performed using pulse oximetry to detect abnormal oxygen saturation levels suggestive of possible congenital heart disease (doi: 10.1542/peds.2011-1317).

Congenital heart defects occur in about 1 out of every 120 newborns. At present, they are typically identified when pregnant women have their third-trimester ultrasound—a hit-or-miss approach that may not reveal a defect—or during a physical examination performed by a pediatrician or family physician, or when a parent of a newborn notices abnormal behavior days or weeks after the birth, at which time it may be too late for treatment. According to the US Centers for Disease Control and Prevention, from 1999 through 2006, there were 41 494 deaths related to congenital heart defects in the United States.

Alex R. Kemper, MD, MPH, MS, lead author of the panel's recommendations and an associate professor of pediatrics at Duke University School of Medicine in Durham, NC, said early screening is crucial. “About 25% of those children with congenital heart disease have critical congenital heart defects, conditions that require interventions very early in life,” Kemper said. “The sooner you identify and intervene, the better the outcome.”

Screening was recommended in September 2010 by the US Department of Health and Human Services (DHHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. But the DHHS secretary said the department was not ready to endorse such screening and wanted to hear of implementation strategies from the department's various agencies.

The expert panel, convened in January 2011 by the secretary's advisory committee, the American College of Cardiology, and the American Heart Association, lays out the parameters of a possible implementation approach. The 40-member panel consists of academics and experts from various universities, medical centers, advocacy groups, and state and federal government agencies. The panel's strategy is endorsed by the American Academy of Pediatrics, the American College of Cardiology Foundation, and the American Heart Association.

To screen for congenital heart disease, the panel recommended using pulse oximetry, a simple and inexpensive tool that involves the placement of probes on a newborn's right hand and a foot. Citing results from several recent large European studies, the panel said a screening result should be considered positive when any oxygen saturation measure is less than 90%, when oxygen saturation is less than 95% in both extremities on 3 measures each separated by 1 hour, or when there is more than a 3% absolute difference in oxygen saturation between the right hand and a foot on 3 measures performed 1 hour apart. The screening should occur between 24 and 48 hours after birth.

The panel members said such screening should capture around two-thirds of all congenital heart disease cases and have a false-positive rate of less than 0.2%. A child whose screening result is positive should quickly undergo an echocardiogram and see a cardiologist for further assessment.

But issues do remain. Not all birthing facilities, most of which have pulse oximetry, have direct access to echocardiograms and cardiologists, so arrangements for suitable follow-up evaluation need to be in place. Children born at home should be screened during their first visit to the pediatrician, Kemper said. Another issue to be resolved is setting the proper oxygen saturation cutoff points for communities at high altitudes, where oxygen saturation is naturally lower.

Even as federal agencies tweak screening recommendations for the nation, some states are going forward on their own. On August 31, New Jersey began its congenital heart disease screening program. Newborns there will be screened using pulse oximetry between 24 and 48 hours after birth, with the cutoff points for a positive screening result slightly more stringent than those suggested for the national program.

Tina Tan, MD, acting commissioner of New Jersey's Department of Health and Senior Services, explained her state's cutoff points for a positive screening result. “We want to increase the sensitivity, and so we are more conservative [with the cutoff points],” Tan said. “There is always the balance between the false-positives and false-negatives, and it is better to minimize the false-negatives.”