Updated pediatric screening recommendations for critical congenital heart disease | Image Credit: © Chinnapong - © Chinnapong - stock.adobe.com.

The American Academy of Pediatrics (AAP) has recently updated screening recommendations for newborn critical congenital heart disease (CCHD). The birth defect causes the highest number of deaths among infants aged younger than 1 year due to congenital malformations, stated the AAP in a press release.¹

A simplified screening algorithm, the more uniform reporting of data nationally, and other health care provider updates, highlight the report titled "Newborn Screening for Critical Congenital Heart Disease: A New Algorithm and Other Updated Recommendations," published in the January 2025 edition of Pediatrics.¹

CCHD screening was added to the US Recommended Uniform Screening Panel in 2011, and in 2018, was adopted by all US states and territories. This effort was made to help detect heart conditions that typically present with hypoxemia and require intervention during the first year of life, according to the authors of the report, including Matthew E. Oster, MD, MPH, FAAP.^1,2

“The use of a simple bedside test, pulse oximetry, estimates the amount of oxygen in the baby’s blood and has become a lifesaver for infants born with critical congenital heart disease,” said Oster, a pediatric cardiologist at Children's Healthcare of Atlanta, in a press release.¹

“This clinical report builds on the landmark achievements the medical field has accomplished in screening infants for heart defects, and it identifies ways to improve education for health care providers," said Oster.¹

The AAP stated that approximately 8 in every 1000 infants have CHD, while 2 to 4 of every 1000 infants have critical forms of CHD or life-threatening CCHD. Pulse oximetry use for asymptomatic newborns at or around 24 hours of life helps identify individuals at risk, which can lead to live-saving intervention before being discharged.¹

The report reinforced screening recommendations, acknowledging data from the state level which revealed CCHD screening policies are associated with decreased infant mortality and decreased emergency hospitalizations attributable to CCHD. Additionally, the AAP stated, early infant deaths from CCHD decreased by 33% after states implemented mandatory CCHD screening.²

When screening is used in conjunction with prenatal ultrasound and newborn physical examination, approximately 95% of infants with CCHD are detected before being discharged from the hospital.¹

Following more than 10 years of experience and evaluation, the following are updated recommendations from the AAP.²

Recommendations

Related to algorithm simplification, the AAP recommends the lower limit of an acceptable oxygen saturation should be ≥95% in the pre- and post-ductal measurements with the rationale being less confusion and misinterpretation. Another recommendation is only 1 retest following an indeterminate result, thus resulting in shorter time to recognition of CCHD and potentially increased sensitivity without a clinically significant impact on retesting rates.²

Another recommendation is newborns should not be on supplemental oxygen to avoid false negative screenings. The use of the recommended minimum dataset is another update from the AAP, for the improved ability to monitor and assess the impact of CCHD screening.²

The AAP also recommends linking newborn screening programs with birth defect monitoring programs and vital records, which can allow states and territories to detect false negative results from screenings. This linkage also identifies opportunities to improve the screening process.²

Related to educating health care professionals, the AAP points out limitations of screenings, acknowledging that CCHD can still be present in a child that has "passed" CCHD screening, according to the authors of the report. Additionally, education in identifying a disease other than CCHD, such as a different hypoxemic condition, is recommended.²

Lastly, the AAP recommended enhanced efforts to use health information technology and optimization of electronic health records. This can result in a streamlined implementation of CCHD screening and improve compliance with CCHD screening.²

"The earlier we can detect these conditions, the earlier we can treat and monitor the baby during these first days of life,” said Gerard R. Martin, MD, MACC, FAHA, FAAP, senior author of the clinical report and pediatric cardiologist at Children's National Hospital.¹

“The timely coordination of care saves lives and has proven to be cost-efficient. The routine and uniform use of screening at every medical center is essential as we learn more about critical congenital heart disease.”¹

References:

1. American Academy of Pediatrics Updates Screening Recommendations for Critical Congenital Heart Disease. AAP. Press release. December 10, 2024. Accessed January 2, 2025.

2. Oster EM, Nelangi MP, Pramanik AK, et al. Newborn Screening for Critical Congenital Heart Disease: A New Algorithm and Other Updated Recommendations: Clinical Report. Pediatrics January 2025; 155 (1): e2024069667. 10.1542/peds.2024-069667