Screening for Critical Congenital Heart Disease: A Matter of Sensitivity

Abstract

It is with great interest that we read the letter by Dummula and Pandey [2] regarding the recent article entitled "False-Negative Pulse Oximetry Screening for Critical Congenital Heart Disease: The Case for Parent Education" [1]. Although much attention has been focused on children with a positive result (i.e., those who fail screening), little is known regarding children with a negative result (i.e., those who pass screening), particularly those with a false-negative result.However, we wish to comment on a potential misconception regarding screening. In their letter, Dummula and Pandey urge the American Academy of Pediatrics "to mandate that nurseries document the cardiac conditions specifically ruled out by virtue of a negative screen on every discharge summary." They suggest that pulse oximetry screening for critical congenital heart disease (CCHD) should be used to rule out the possibility of a child having certain types of CCHD due to the high specificity of the test.Indeed, the specificity of pulse oximetry screening for CCHD is high at 99.9 % [95 % confidence interval (CI) 99.7-99.9 %]. However, the sensitivity, which is the more relevant measure for ruling out disease, is only 76.5 % (95 % CI 67.7-83.5 %) [4]. With this level of sensitivity, some cases of CCHD in newborns will still be missed before they are discharged

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

“…While many infants with CCHD will likely be identified through screening, there will still be many false negatives, suggesting that the general practitioner should not rely on CCHD screening alone to rule out a CCHD. 25 Our analysis also suggests that increases in prenatal diagnosis of CCHD are unlikely to substantially impact the number of infants detected through CCHD screening. Future efforts should focus on documenting the true impact of CCHD screening in practice, and linking CCHD screening data with birth defects surveillance data, 24 in order to identify the outcome of infants with false negative screening results.…”

Early detection of and intervention for two newborns with critical congenital heart disease using a specialized device as part of a screening system

“…5 For suspected newborn, a protocol was established in each hospital, where the WBN staff immediately notified on-call physician triggering pediatric and cardiologic evaluation procedures.Complete clinical examination and two-dimensional transthoracic echocardiography scan with pulsed-wave and color-flow Doppler imaging were performed for those presumptive positive newborns. 6,7 Afterwards, a trained team member communicated the findings to the patient’s parents and, if indicated and authorized, the intervention protocol continued.…”