P2.B029: Demographics in Screening for Critical Congenital Heart Disease

Background: The incidence of congenital heart disease (CHD) in the United States is around 40,000 live births per year, or 1% of babies born. There is no known racial/ethnic predisposition to CHD, so the proportion of patients should be reflective of the population. Despite implementation of nation-wide screening efforts with pulse oximetry for critical congenital heart disease, infants continue to go undiagnosed and present to emergency departments requiring admission and surgical procedures for their CHD. Recent studies have shown pulse oximetry has the potential to overestimate saturations in patients with darker skin. We hypothesize that pseudo-normalization of pulse oximetry screening in black, indigenous, and people of color can lead to later diagnosis in this population. This may contribute to disparities in outcomes as later diagnosis is associated with greater morbidity and mortality.

Methods: A retrospective cross-sectional study of patients aged 24 hours to four months of age was performed, querying the Pediatric Health Information System (PHIS) database for patients who were admitted through the emergency department with a primary diagnosis of critical congenital heart disease (CCHD) by ICD code and who required a cardiac surgery during their admission. Newborns with known diagnoses of CCHD are not discharged from the nursery, meaning emergency department presentation was indicative of missed initial diagnosis. We then collected the demographic data from patients with these conditions. These data were compared to pooled demographic data from other PHIS studies. Race/ethnicity was classified as non-Hispanic White, non-Hispanic Black, Hispanic, Asian/Pacific Islander, or other.

Results: A total of 37,585 unique patients were identified over the twelve-year study period (2010-2022). Compared to pooled PHIS data, our data suggests a similar prevalence of White individuals (50.94% vs. 50.65%), a relatively decreased proportion of Black individuals (19.09% vs. 11.48%), similar proportion of Asian/Pacific Islander individuals and individuals categorized as other races (3.24% vs. 2.97%, 10.23% vs. 10.45%), and an increased prevalence in Hispanic individuals (21.21% vs. 24.45%). Given that PHIS is designed to be a representative national sample, this suggests an over-representation in the prevalence of Hispanic individuals compared to the United States population, as well as a decrease in the prevalence of Black individuals. We identified coarctation of the aorta as the most common lesion in our dataset.

Conclusion: Our data suggest that there is a relative over-representation in neonates and infants who identify as Hispanic and relative under-representation in Black patients presenting to emergency departments needing admission for cardiac surgery. This skew from pooled data suggests that the current screening modalities available might not reliably represent the prevalence of CHD in different racial/ethnic groups. Our data reflected that coarctation of the aorta was the most common critical congenital heart lesion missed by screening, which has been well established in literature.