Screening for Critical Congenital Heart Defects
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Screening Newborns for Critical Congenital Heart Disease
Watch this Medscape video to learn what primary care providers should know about newborn screening for critical congenital heart defects.
Newborn screening using pulse oximetry can identify some infants with critical congenital heart defects (CCHDs, which also are known as critical congenital heart disease). CCHDs represent about 25% of all congenital heart defects.1 CCHDs are structural heart defects that often are associated with hypoxemia among infants during the newborn period and typically require some type of intervention – usually surgical – early in life. Without screening, some newborns with CCHDs might be missed because the signs of CCHD might not be evident before an infant is discharged from the hospital after birth. Infants with CCHDs are at risk for significant morbidity or mortality early in life because of closing of the ductus arteriosus or other physiologic changes. The targets of CCHD screening include 7 primary targets (hypoplastic left heart syndrome, pulmonary atresia with intact septum, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus) and 5 secondary targets (coarctation of the aorta, double outlet right ventricle, Ebstein anomaly, interrupted aortic arch, and single ventricle).
Current published recommendations2 focus on screening infants in the well-baby nursery and in intermediate care nurseries or other units in which discharge from the hospital is common during an infant’s first week of life. A pulse oximeter is used to measure the percentage of hemoglobin in the blood that is saturated with oxygen.
The following algorithm has been developed to show the steps in screening:2
PLEASE NOTE: Percentages refer to oxygen saturation as measured by pulse oximeter.
A screen is considered positive if (1) any oxygen saturation measure is <90% (in the initial screen or in repeat screens); (2) oxygen saturation is <95% in the right hand and foot on three measures, each separated by one hour; or (3) a >3% absolute difference exists in oxygen saturation between the right hand and foot on three measures, each separated by one hour. Any screening that is ≥95% in the right hand or foot with a ≤3% absolute difference in oxygen saturation between the right hand or foot is considered a negative screen and screening would end.
Any infant with a positive screen should have a diagnostic echocardiogram, which would involve an echocardiogram within the hospital or birthing center, transport to another institution for the procedure, or use of telemedicine for remote evaluation. The infant’s pediatrician should be notified immediately and the infant might need to be seen by a cardiologist for follow-up.
False positives are decreased if the infant is alert, and timing CCHD screening around the time of the newborn hearing screening improves efficiency. Pulse oximetry screening should not replace taking a complete family medical and pregnancy history and completing a physical examination, which sometimes can detect CCHD before the development of hypoxia. Pulse oximetry screening does not detect all CCHD, so it is possible for a baby with a negative screening result to still have CCHD or other congenital heart defects.
Research is needed on screening certain populations (e.g., those at high altitudes) and evaluating diagnostic strategies (e.g., telemedicine) for nurseries without onsite echocardiography.
Current Status of Recommendations
- In September 2010, the U.S. Department of Health and Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) voted to add CCHD screening to the SACHDNC Recommended Uniform Screening Panel.
- In September 2011, HHS Secretary Sebelius approved adding CCHD to the Recommended Uniform Screening Panel and outlined specific tasks assigned to NIH, CDC, and HRSA.
- There are differences in the screening process and the number and types of conditions included in screening in each state. The status of CCHD screening in each state can be seen here.
Economic Considerations and Costs2
Costs of pulse oximetry screening include screening equipment, supplies associated with screening (e.g., probes, adhesive wraps), and staff time needed to perform screening and track results.
- Screening has been estimated to cost less than $15.00 per infant.
- The time required for each screen is about 10 minutes.3
Costs associated with diagnosis and follow-up of infants with out-of-range (positive) results are not included in these estimates. For example, an echocardiogram to verify an out-of-range (positive) screen could cost several hundred dollars.
For More Information
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Centers for Disease Control and Prevention. “Rapid Implementation of Statewide Mandate for Pulse Oximetry Newborn Screening to Detect Critical Congenital Heart Defects—New Jersey, 2011.” MMWR 2013; 62:292-294. [Read article] [Read key findings]
Centers for Disease Control and Prevention. Assessment of Current Practices and Feasibility of Routine Screening for Critical Congenital Heart Defects - Georgia, 2012. MMWR 2013; 62:288-91. [Read article] [Read key findings]
Centers for Disease Control and Prevention. "Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010-2011." MMWR 2012; 61: 849-853. [Read article] [Read key findings]
CDC Feature on Screening for Heart Defects: A Mother’s Story In the US, about 1 in every 100 babies is born with a congenital heart defect. About 25% of these heart defects are critical congenital heart defects. Read one mother’s story about her son’s critical congenital heart defect.
Children's National Medical Center's Congenital Heart Disease Screening Program has created videos about CCHD screening for parents and healthcare professionals. They also have a toolkit for implementing CCHD screening.
Pulse Ox Tool This web application and mobile app are provided as a free service by Children's Healthcare of Atlanta to aid health care professionals in screening for critical congenital heart disease.
American Academy of Pediatrics: Endorsement of Health and Human Services Recommendation for Pulse Oximetry Screening for Critical Congenital Heart Disease [Read article]
Centers for Disease Control and Prevention. Racial differences by gestational age in neonatal deaths attributable to congenital heart defects --- United States, 2003-2006. MMWR Morb Mortal Wkly Rep. 2010;59:1208-1211. [Read article]
Chang, RK, Gurvitz, M, Rodriguez S. Missed diagnosis of critical congenital heart disease. Arch Pediatr Adolesc Med. 2008;162:969-974. [Read article]
Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Lloyd-Puryear M, Howell RR. Strategies for Implementing Screening for Critical Congenital Heart Disease. Pediatrics. 2011; 128:e1-e8. [Read article]
CBS News Early Show interview with Alex Kemper
Knapp, AA, Metterville, DR, Kemper, AR, Prosser, L, Perrin, JM. Evidence review: Critical congenital cyanotic heart disease, Final Draft, September 3, 2010. Prepared for the Maternal and Child Health Bureau, Health Resources and Services Administration. [Read article]
Mahle, WT, Newburger, JW, Matherne, GP, Smith, FC, Hoke, TR, Koppel, R, Gidding, SS, Beekman, RH, 3rd, Grosse, SD. Role of pulse oximetry in examining newborns for congenital heart disease: A scientific statement from the AHA and AAP. Pediatrics. 2009;124:823-836. [Read article]
Mai CT, Riehle-Colarusso T, O'Halloran A, Cragan JD, et al. Selected Birth Defects Data from Population-based Birth Defects Surveillance Programs in the United States, 2005-2009: Featuring Critical Congenital Heart Defects Targeted for Pulse Oximetry Screening. Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94: 970-983. [Read summary] [Read key findings]
Olney RS, Botto LD. Newborn Screening for Critical Congenital Heart Disease: Essential Public Health Roles for Birth Defects Monitoring Programs. Birth Defects Research Part A: Clinical and Molecular Teratology. 2012; 94: 965-969. [Read summary] [Read key findings]
Reller, MD, Strickland, MJ, Riehle-Colarusso, TJ, Mahle, WT, Correa, A. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr. 2008;153:807-813. [Read article]
Thangaratinam S, Brown K, Zamora J, Khan KS, Ewer AK. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012; 379:2459-2464. [Read article]
- Oster M, Lee K, Honein M, Colarusso T, Shin M, Correa A. Temporal Trends in Survival for Infants with Critical Congenital Heart Defects. Pediatrics. 2013. (In Press).
- Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Lloyd-Puryear M, Howell RR. Strategies for Implementing Screening for Critical Congenital Heart Disease. Pediatrics. 2011; 128:e1-e8. [Read article]
- Centers for Disease Control and Prevention. Assessment of Current Practices and Feasibility of Routine Screening for Critical Congenital Heart Defects in Georgia. Morbidity and Mortality Weekly Report. 2013. (In Press).
- Centers for Disease Control and Prevention
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