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 collectively in some instances as critical congenital heart disease). CCHDs are structural heart defects that often are associated with hypoxia among infants during the newborn period. 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. While several defects could be considered CCHDs, in the context of newborn screening using pulse oximetry, seven defects are classified as CCHD:   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. These seven CCHDs represent about 17-31% of all congenital heart disease.¹ All of these defects require some type of intervention―often involving a surgical procedure―soon after birth.

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. Other heart defects might be considered secondary screening targets. Some of these heart defects can be just as severe as the primary screening targets and also require intervention soon after birth. However, newborn screening using pulse oximetry may not detect these heart defects as consistently as the seven disorders listed as primary targets. These secondary targets include aortic arch atresia or hypoplasia, interrupted aortic arch, coarctation of the aorta, double-outlet right ventricle, Ebstein anomaly, pulmonary stenosis, atrioventricular septal defect, ventricular septal defect, and single ventricle defects (other than hypoplastic left heart syndrome and tricuspid atresia).

 

Methods and Screening Algorithm²

Current recommendations 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

[Text description of chart]

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, track results, and communicate with parents.

• Screening has been estimated to cost $5.00 to $10.00 per infant.
  
  
• The time required for each screen is about 1 to 5 minutes.
  
  

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

CDC Feature on Screening for Critical Congenital Heart Defects In the US, about 4,800 (or 11.6 per 10,000) babies born each year have one of seven critical congenital heart defects (CCHDs). Learn more about how CCHD screening potentially can identify these babies soon after birth.

Children’s National Medical Center’s Congenital Heart Disease Screening Program
Children's National Medical Center provides information on CCHD screening for healthcare providers and parents. Contact them to request a toolkit for implementing CCHD screening.

Congenital Heart Public Health Consortium

Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

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]

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]

 

 

 

References

1. 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]
   
   
2. 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]