In December 2024, the American Academy of Pediatrics published an updated screening algorithm for critical congenital heart defects (CCHD). According to the US Centers for Disease Control and Prevention (CDC), one in four babies born with heart defects have a CCHD. As of 2005, 83% of babies with a CCHD were expected to live past one year, up from 67% in 1993. Timing of diagnosis is critical to improving the chances of survival—detection of CCHD by pulse-oximetry has reduced early infant death by 33%. It is essential that the detection of CCHD is effective and efficient to yield the best possible outcome for babies with CCHD.
In 2011, the US Recommended Uniform Screening Panel (RUSP), a list published by the Department of Health and Human Services (HHS) of conditions highly recommended for newborn screening, added CCHD screening via pulse-oximetry. Detection of CCHD also can be done prenatally via ultrasounds and genetic testing. However, in some parts of the US, only 60% of CCHD cases are detected prenatally. Newborn screening by pulse-oximetry can catch these undiagnosed cases. By 2018, all 50 states and the District of Columbia adopted pulse-oximetry screening for CCHD.
The AAP reviewed and updated the original 2011 screening algorithm to determine its effectiveness since implementation and make updates as necessary. Some issues addressed since the original algorithm include issues with result interpretation, and some gaps in applicability. Some conditions under which the 2011 guidelines are not applicable include neonatal intensive care unit (NICU) babies, high-altitude births, and non-hospital births.
Pulse-oximetry screening is generally performed when the baby is 24 hours old, and can specifically detect hypoxemia, or low blood oxygen levels. This flags for follow-up and treatment. The original algorithm was written as follows: At 24 hours of age, a pulse-ox reading is taken at the right hand and foot. Blood oxygen under 90% at either location is a failed screen, between 90% and 95% or with more than 3% difference between the readings is indeterminate, and over 95% in either location and 3% or lower difference between readings is a passed screen. In the case of an indeterminate result, the baby is to be re-tested twice, with an hour between tests.
The new algorithm made three adjustments. First, if the pulse-ox is 90% or higher in the right hand or foot, then in the next reading, the patient only “passes” if the oxygen is 95% or over in both locations and the difference between hand and foot readings is 3% or lower. This was implemented to clarify the threshold for a “pass” or “indeterminate” condition and make pulse-oxidation readings easier to interpret. Second, the original
recommendation of two re-tests after an indeterminate result has been reduced to one. This change was made to reduce the time to treatment, ultimately aiming to improve outcomes. The AAP reports that there does not appear to be any increase in false positives nor any increase in the burden of healthcare due to this adjustment. Third, CCHD screenings are not to be performed on babies using supplemental oxygen. This accounts for NICU babies, who may have false negatives for CCHD if the test is administered while the baby is on oxygen.
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By GlobalDataThe AAP further stressed the importance of education concerning the limitations of pulse-oximetry in CCHD screening. Pulse-oximetry only measures blood oxygen levels, which means that there are two scenarios in which screening is not a standalone diagnostic. The first is that a passing pulse-oximetry result does not necessarily rule out CCHD, because there are CCHDs that do not result in hypoxemia at 24 hours of age. The second is that a failing pulse-oximetry result but the absence of CCHD does not mean the absence of disease: this could be an indication of another cause of hypoxemia such as hypothermia, lung disease, or sepsis. Training in screening results and limitations can further strengthen the use of pulse-oximetry in detecting newborn disease, whether that is CCHD or otherwise.
GlobalData epidemiologists estimate 4,568 diagnosed prevalent cases of hemodynamically significant heart disease in the US in 2024. Newborn screening programs such as pulse-oximetry help identify these cases and allow for the identification and treatment of affected babies, giving them a better quality of life. Screening algorithms must undergo routine scrutiny, to ensure that the most effective and efficient care is being provided.
