Estimated Number of Infants Detected and Missed by Critical Congenital Heart Defect Screening

Abstract

Background and objectives In 2011, the U.S. Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHD), yet few estimates of the number of infants with CCHD likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHD in the United States likely to be detected (true positives) and missed (false negatives) through newborn CCHD screening. Methods We developed a simulation model based on estimates of birth prevalence, prenatal diagnosis, late detection, and sensitivity of newborn CCHD screening through pulse oximetry to estimate the number of true positive and false negative nonsyndromic cases of the seven primary and five secondary targets of CCHD screening identified through screening. Results We estimated that 875 (95% uncertainty interval [UI]: 705–1,060) U.S. infants with nonsyndromic CCHD, including 470 (95% UI: 360–585) among primary CCHD screening targets, will be detected annually through CCHD newborn screening. An additional 880 (UI: 700–1,080) false negative screenings, including 280 (95% UI: 195–385) among primary screening targets, are expected. We estimated that similar numbers of CCHD (within ~1 case/10,000 live births) would be detected under scenarios comparing “lower” (~19%) and “higher” (~42%) than current prenatal detection prevalences. Conclusions A substantial number of nonsyndromic CCHD cases are likely to be detected through universal CCHD screening; however, an equal number of false negative screenings, primarily among secondary targets of screening, are likely to occur. Future efforts should document the true impact of CCHD screening in practice.

Pulse Oximetry Overestimates Oxyhemoglobin in Neonates with Critical Congenital Heart Disease

“…Despite screening, some infants may still go undetected. In 2015, Ailes et al [16], using a simulation study, estimated that of patients with nonsyndromic CCHD not diagnosed antenatally, as many as 50% will also not be detected by the present CCHD screening protocols. Large-scale population-based studies have demonstrated improved CCHD detection using pulse oximetry screening.…”

Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths

“…8 Modeling studies of the potential number of cases detected by screening for critical congenital heart disease in the United States suggest that screening could be cost-effective. 8,9 …”

Neonatal screening for life-threatening conditions persistent – pulmonary hypertension in newborns and critical congenital heart disease – by the method of pulse oximetry

“…Даже в клиниках, где приме-няют аппарат ультразвуковой пренатальной диагно-стики экспертного класса и получают изображение сердца плода высокого качества, случаи недиагно-стированных критических пороков сердца достигают 10% [3]. В США в 2015 г. был представлен отчет в об-ласти педиатрии, в котором спрогнозирована позд-няя диагностика критических врожденных пороков сердца у 1755 новорожденных, половине из них по-мог бы скрининг пульсоксиметрии [4].…”