Newborn Coalition praises SACHDNC's Critical Congenital Heart Disease universal screening recommendation

Newborn CoalitionSep 22 2010

In a historic vote on September 17, 2010, the Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (SACHDNC) unanimously agreed to recommend the addition of screening for Critical Cyanotic Congenital Heart Disease to the core panel for universal screening of all newborns in the United States.

“We have the ability to reduce the infant mortality rate in this country. We have the technology, the know-how, and the expertise to fight the statistics”

The Newborn Coalition, an advocacy group for America's newest, most vulnerable citizens and their families, applauded the Committee for voting to recommend this vital screening - only the second condition to be added for inclusion to the mandatory newborn screening roster and the first point of care screening to be recommended by the committee. Pulse oximetry screening for CCCHD joins hearing screening as the only other point of care, non-metabolic screening to be recommended for all newborns.

"This is a huge win for the critical congenital heart disease community and the Newborn Coalition," said Annamarie Saarinen, coalition board member and mother of a toddler diagnosed with a critical congenital heart defect at 40 hours old. "The Advisory Committee has taken a historic step forward - laying the groundwork for important point of care screenings that can improve outcomes and save lives. We thank the Committee for their positive decision on behalf of all the babies lost to heart defects, those surviving with pediatric heart disease, and for all future newborns who now have an improved chance of survival."

Congenital heart defects are the more prevalent birth defect, affecting approximately 1 in 100 live births in the United States, and around the world. Each year in the U.S., 40,000 babies will be diagnosed with heart defects or heart disease, and 4,000 of those will not reach their first birthday. Like many other diseases and disorders addressed by newborn screening, heart defects are largely hidden and without recognizable symptoms. About a fourth of all CHD cases involve Critical Congenital Heart Disease (CCHD), defined as a condition that requires surgery or catheter intervention in the first year of life. Research has shown early detection to significantly improve outcomes and save lives.

Pulse oximetry screening is a simple, non-invasive screening tool that measures how much oxygen is in the blood and can also help to identify babies that may have serious heart problems before they leave the newborn nursery. Without early diagnosis and treatment, many infants with CCHD can end up in heart failure - with potential neurological damage, developmental delay, organ failure and/or long term feeding issues.

"The Newborn Coalition and its members absolutely support SACHDNC in making this recommendation and look forward to continuing to collaborate working with appropriate federal agencies, providers, Secretary Sebelius, and the advocacy community to make sure this new standard of care is implemented meaningfully and in a timely manner," said Jim Bialick, executive director and board member. "Of the estimated 28,000 children die before their first birthday - 1/7 of them die from congenital heart disease. It was pivotal to the Newborn Coalition to ensure all babies be screened for the most prevalent birth defect - it was our first formal policy priority."

The Advisory Committee's policy recommendation will now be presented to Kathleen Sebelius, Secretary of Health and Human Services. The recommendation includes surveillance, education and quality control, to be supported by the National Institutes of Health (NIH), Health Resources and Services Administration (HRSA) and Centers for Disease Control and Prevention (CDC), as this newborn screening proceeds.