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Key Findings: Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs

Baby laying in its back with its hands above its head.

The Centers for Disease Control and Prevention (CDC) and the National Birth Defects Prevention Network have published a study in the Morbidity and Mortality Weekly Report (MMWR) titled, “Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010-2011.” Congenital heart disease occurs in approximately 8/1,000 live births. Of these cases, about 25% are considered to be critical, defined as requiring surgery or catheter intervention before one year of age. Left undetected, infants with critical congenital heart disease (CCHD) are at risk for serious complications and even death in the first few days or weeks of life. In September 2011, the Secretary of Health and Human Services (HHS) approved adding newborn screening for CCHD to the Recommended Uniform Screening Panel. This addition had been recommended the previous year by a federal advisory committee. The screen for CCHD is a simple bedside test that determines the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of a CCHD. State birth defects tracking programs already work with hospitals to track children born with birth defects. Their systems could potentially be adapted to work with newborn screening programs. CDC worked with the National Birth Defects Prevention Network to assess how state birth defects tracking programs could assist with CCHD screening. States were surveyed in November 2010 after the initial recommendation and again in November 2011 after the Secretary’s approval. The purpose of the surveys was to assess programs’ potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. The surveys asked about state CCHD screening activities, evaluation of CCHD newborn screening, confirmation of CCHD cases, and barriers to using birth defects tracking programs to assist with evaluation of CCHD newborn screening. You can read the article here. The findings from this article are summarized in the following text.

Main Findings from This Study

  • All 50 states, the District of Columbia, and Puerto Rico completed the 2010 and 2011 surveys.
    • 43 states responded that they currently have a birth defects tracking program.
  • Many state birth defects tracking programs have the data and capabilities to lead evaluations of newborn screening for CCHD.
  • State birth defects tracking programs increased their involvement with CCHD screening from 2010 to 2011.
  • State birth defects tracking programs reported ways in which they could lead the evaluation of CCHD screening. These included evaluating death and disability due to CCHD and evaluating interventions for CCHD.
  • State birth defects tracking programs reported a variety of relationships with state newborn screening programs and some barriers to involvement with CCHD screening.
    • Most states reported that not having enough staff and resources are barriers to involvement with newborn screening for CCHD.

About CCHD Screening, Birth Defects Tracking, and This Study

Universal newborn screening is the practice of screening every newborn for certain harmful or potentially fatal conditions. These include hearing loss and certain genetic, endocrine, and metabolic disorders that are not otherwise apparent at birth. Through early identification and treatment, newborn screening provides a chance to reduce infant disability and death. The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) provides national recommendations on newborn screening. These recommendations are reviewed by the Secretary of HHS. Currently, 31 conditions are included in the Recommended Uniform Screening Panel. States use the Recommended Uniform Screening Panel to inform their screening programs, and the states decide on their own panels. The most recent addition to the Recommended Uniform Screening Panel is CCHD.

State-based birth defects tracking programs keep track of the number of babies born with birth defects. Information from birth defects tracking systems is useful to public health programs for several reasons. This information can be used to track trends in rates over time and to plan and evaluate birth defects prevention activities. It can help with studies on possible causes and risk factors for birth defects. Programs can use this information to educate the public about birth defects and prevention and to refer families of children with birth defects to appropriate services.

State birth defects programs already collect data on prevalence of CHD and could evaluate false positives (a baby who has a positive screening test for a CCHD but does not actually have a CCHD after further evaluation) and false negatives (a baby who had a negative screen suggesting there was no CCHD but actually did have a CCHD). Differences across states in resources and methods used to identify children with CCHDs could affect how state programs can provide help with implementing and evaluating CCHD screening.

CCHD Screening and Birth Defects Tracking: CDC Activities

As screening for critical congenital heart defects (CCHDs) is beginning in many states, CDC will play an important role in the tracking of babies with a CCHD identified through CCHD screening. Evaluating the effect of screening for CCHD will provide states and health care providers with data to better understand the possible impact of screening. This information will help state officials considering adding this condition to their existing newborn screening programs.

CDC has been charged by the HHS Secretary to evaluate the ability of state birth defects tracking systems to check the effectiveness of CCHD newborn screening programs.

  • CDC is assessing states’ needs for help with CCHD screening.
  • CDC worked with New Jersey and is working with Georgia to assess tracking of CCHD screening and the cost of CCHD screening.
  • CDC has been tasked by the HHS Secretary to conduct a cost-effectiveness analysis of newborn screening, for the early identification of CCHDs.
  • CDC is developing a cost-effectiveness model to examine hospital costs of universal CCHD screening. The model will include the average cost and increase in cost of CCHD screening per newborn, as well as the number of infants with CCHDs identified through screening. The model will account for the number of infant deaths avoided due to CCHD screening, the number of life years gained due to CCHD screening, and the related costs.

Learn more about CCHD screening »

The National Birth Defects Prevention Network (NPDPN) was established in 1997 to maintain a network of national, state, and local programs for birth defects tracking, research, and prevention. CDC supports and works with the NBDPN. The NBDPN serves as a forum for exchanging ideas about preventing birth defects for tracking and researching birth defects. NBDPN provides technical support for state and local programs. The NBDPN assesses the effect of birth defects on children, families, and the health care system. It also identifies risk factors for birth defects. This information can be used to develop strategies to prevent birth defects and to assist families and their providers in preventing other disabilities in children with birth defects.

Learn more about the National Birth Defects Prevention Network (NBDPN) »
Learn more about birth defects tracking »

Reference for Key Findings Summary

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.

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