Most if not all newborn nurseries in this country are screening infants at birth for critical congenital heart disease (CCHD) using an algorithm recommended by the American Academy of Pediatrics (10.1542/peds.2011-3211). Use of this algorithm has resulted in the diagnosis of other conditions associated with hypoxia (e.g. pulmonary hypertension or sepsis) that might make identifying “false positives” well worth the effort. Diller et al. (10.1542/peds.2017-4065) decided to see if the algorithm could be simplified by decreasing the number of tests required. The authors used simulation modeling on 77,148 newborns born from 2013-2016 at their hospital in Georgia and found that with only one repeat check for those with intermediate results before going to diagnostic testing, the total number of pulse-oximetry tests required fell dramatically with no change in sensitivity, but the number of diagnostic tests increased.
So what does this mean? We asked Drs. Alex Kemper (who helped establish the original algorithm) and neonatologist Dr. Mark Hudak to share their thoughts on this modeling study in an accompanying commentary (10.1542/peds.2018-0576). Their commentary is an important addition to what is noted in the Diller et al. study by pointing out the role of missing false negatives, the role of prenatal diagnosis to already identify cases prior to delivery, and the clinical context of how the baby is doing relative to the oximetry reading. In other words, there would be risks and benefits to modifying the existing algorithm that would vary depending on the situation for a given individual patient and reaffirming the need to screen populations using the current guideline, rather than try to finesse improvements based on analyses of individual retrospective results from babies at one hospital. Take heart – both the study and commentary provide a superb overview of where we are with newborn screening for CCHD; so take the pulse of both and learn more.