JAMA Network | JAMA | Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010–2011
From the Centers for Disease Control and Prevention | Morbidity and Mortality Weekly Report| December 19, 2012
Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010–2011 FREE
MMWR. 2012;42:849-853.
1 table omitted.
In September 2011, the Secretary of the U.S. Department of Health and Human Services (HHS) approved the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 2010 recommendation that all newborns be screened for critical congenital heart disease (CCHD) using pulse oximetry, a noninvasive test of blood oxygenation, to prevent mortality and morbidity.1 CDC partnered with the National Birth Defects Prevention Network (NBDPN) to conduct a survey designed to assess state birth defect surveillance programs' potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. States were surveyed in November 2010, after the initial SACHDNC recommendation, and again in November 2011, after the Secretary's approval. From 2010 to 2011, the number of birth defects surveillance programs involved in CCHD screening increased from one to 10. Barriers exist, such as the lack of legislative authority, staffing, funding, and informatics infrastructure. Sixty-seven percent of programs take an average of more than 12 months to collect complete data on birth defect cases, including congenital heart defects. An assessment of state birth defects programs' existing data and capability to lead the evaluation of screening for CCHD is warranted.
Universal newborn screening is the practice of screening every newborn for certain serious genetic, endocrine, and metabolic conditions, as well as functional disorders that are not apparent at birth. Through early identification and treatment, newborn screening provides an opportunity for reduction in infant morbidity and mortality.2- 3 SACHDNC provides national guidelines on newborn screening that are reviewed and endorsed by the HHS Secretary. The conditions for which screening is endorsed by SACHDNC, after a formal evidence review process, are known collectively as the Recommended Uniform Screening Panel (RUSP).3 In 2012, a total of 31 conditions are included in RUSP. States use RUSP as guidance when establishing their state-specific screening panels.
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