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Key Findings: Estimating the impact of newborn screening for critical congenital heart defects in the United States

Baby sleeping on its back

Newborn baby, ready for CCHD screening

In a new study published in JAMA Pediatrics, CDC researchers and partners found about 30% of newborns with a critical congenital heart defect (CCHD) were diagnosed more than three days after birth. This estimate varied based on the type of heart defect, ranging from about 8% for newborns with pulmonary atresia to 62% for those with coarctation of the aorta. Newborn screening for CCHD might be helpful in reducing the frequency of late detection of these conditions, as screening is recommended to occur between 24-48 hours of life. These findings might be useful to states that are considering newborn screening for CCHD.

Read the article’s abstract »

JAMA Pediatrics selected this paper to feature in their journal club. Click here to see the slides »

 

Main Findings from this Study

  • Based on dates reviewed in medical records, about 30% of newborns with a critical congenital heart defect (CCHD) were diagnosed “late,” defined as more than 3 days after birth. The rate of late diagnosis varied by study site, by the type of heart defect, and whether the baby had other birth defects. If these infants had been screened within 24-48 hours of birth, as now recommended by the American Academy of Pediatrics (AAP)1, some of them might have been diagnosed earlier.
  • The chance that a baby received a late diagnosis depended on the type of heart defect the baby had. Babies with pulmonary atresia had the lowest rate of late diagnosis (about 8%). Babies with coarctation of the aorta had the highest rate of late diagnosis (about 62%).
  • Babies with other birth defects (in addition to their heart defect) were less likely to be diagnosed late.
  • “Late” diagnosis also varied by study site, ranging from 22% to 43%.

 

Basics about Critical Congenital Heart Defects


What are critical congenital heart defects?
Congenital heart defects are the most common type of birth defect in the United States, affecting nearly 1% of―or about 40,000―births per year.  About 1 in 4 babies born with a heart defect has a critical congenital heart defect (CCHD, also known as critical congenital heart disease).1 Babies with a CCHD need surgery or other procedures within the first year of life.

How can newborn screening help babies with CCHD?
Some babies born with a CCHD appear healthy at first and can be sent home before their heart defect is detected. These babies are at risk of having serious complications within the first few days or weeks of life and often require emergency care. Newborn screening can identify some of these babies so they can receive care and treatment that can help prevent disability or early death.

Newborn screening for CCHD involves a simple bedside test to determine the amount of oxygen in a baby’s blood. Low levels of oxygen in the blood can be a sign of CCHD. CCHD screening has begun in some states, and laws requiring this screening have been proposed or passed in other states. You can see what is happening in your state here.

About this Study

  • Researchers used data on babies born between 1998 and 2007 from the National Birth Defects Prevention Study, an ongoing study of birth defects in the United States. The overall rate of late diagnosis did not change much over the study period of 1997-2008. Data from these states were included in this analysis: Arkansas, California, Georgia, Iowa, Massachusetts, New York, North Carolina, Texas and Utah.
  • As part of the NBDPS, doctors with special skills in genetics and in diagnosing heart problems in babies reviewed medical records to confirm a baby’s heart defect diagnosis.
  • For this study, researchers looked at 12 types of CCHD that screening might detect. Infants with known genetic or chromosomal conditions such as Down syndrome were not included in this study.
  • Researchers estimated how many babies with CCHD were diagnosed more than 3 days after birth based on medical records. They also looked at factors that might affect whether a baby receives a late diagnosis.

 

More Information

To learn more about congenital heart defects, please visit http://www.cdc.gov/heartdefects/.

To learn more about screening for critical congenital heart defects, please visit http://www.cdc.gov/ncbddd/pediatricgenetics/CCHDscreening.html.

 

Paper Reference

Peterson C and Ailes E, Riehle-Colarusso T, Oster ME, Olney RS, Cassell CS, Fixler DE, Carmichael SL, Shaw GM, Gilboa SM and the National Birth Defects Prevention Study. Late detection of critical congenital heart disease among US infants: estimation of the potential impact of proposed universal screening. JAMA Pediatrics. 2013. [epub ahead of date]

 

Heart Defects: CDC Activities

Centers for Disease Control and Prevention (CDC) works to identify causes of congenital heart defects (CHDs) and ways to prevent them. We do this through:

  1. Surveillance or disease tracking:
    1. State programs: CDC funds and coordinates the Metropolitan Atlanta Congenital Defects Program (MACDP).  CDC also funds 14 population-based state tracking programs. Birth defects tracking systems are vital to help us find out where and when birth defects occur and whom they affect.
    2. Adolescents and adults: CDC recently funded 3 projects to track congenital heart defects among adolescents and adults in order to learn about their health issues and needs across the lifespan.
  2. Research: CDC funds a large study of birth defects called the National Birth Defects Prevention Study. This study is working to identify risk factors for birth defects, including heart defects.
  3. Collaboration:
    1. CDC is assessing states’ needs for help with CCHD screening and reporting of screening results. CDC worked with New Jersey and Georgia to assess their ability to track CCHD screening. CDC is also helping states and hospitals to better understand how much hospitals spend for each baby screened.
    2. CDC promotes collaboration between birth defects tracking programs and newborn screening programs for CCHD screening activities. State birth defects programs collect data on CHDs and could help evaluate the effectiveness of screening by looking at false positives (babies who failed the CCHD screening but do not actually have a CCHD after further evaluation) and false negatives (babies who passed the screen suggesting there was no CCHD but actually did have a CCHD).
    3. CDC provides technical assistance to the Congenital Heart Public Health Consortium and to states receiving funding from the Health Resources and Services Administration (HRSA) for CCHD screening activities.

 

References

  1. 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]
  2. 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; 131:e1502-e1508.
"Pulmonary atresia is a birth defect where the pulmonary valve, which is the valve that controls blood flow from the right ventricle (RV) to the main pulmonary artery (MPA), doesn’t form correctly and is completely closed. In babies with this defect, blood can’t get from the heart to the lungs."
"These are coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia (intact septum), single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus."
 
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