Congenital heart defects (CHDs) are the most common birth-related malformation.¹ Critical CHDs (CCHDs) are life threatening and account for nearly 25% of all CHDs.² Babies sent home with an undetected heart defect are at risk of serious complications within the first few days or weeks of life, requiring emergency care,³ and even at risk of dying.

To date, there have been five published CCHD screening studies that exclusively used Masimo SET^® pulse oximeters and sensors^4,5,13-15, two of which (59,876 subjects) were the basis for the CCHD workgroup recommendation for CCHD screening protocols.^4,7,15 These five studies represent a total of 241,239 infants and include the largest CCHD screening study to date, with over 122,738 subjects.⁵  

These studies, all using Masimo SET^®, concluded that pulse oximetry, in conjunction with clinical assessment, improved screening sensitivity compared to routine physical exam alone.^4,5,13-15

In addition, Masimo SET^® measures perfusion index (Pi). Incorporating perfusion index into screening has been shown to increase sensitivity to the detection of CCHD in infants with pathologically low perfusion.⁴ In a study of 10,009 infants, when Pi was added to CCHD screening, screening revealed abnormalities in 100% of all newborns who had left heart obstructive disease (LHOD).¹³

Traditionally, following birth, newborns were observed for evidence of CHDs by physical assessment and monitoring for common symptoms.¹ Today, studies show that these methods alone can be unreliable and may fail to detect up to 36% of infants with CCHD before discharge.^4,5 Adding screening with pulse oximetry can help diagnose CCHD before an infant becomes symptomatic.⁶ 

In 2011, following numerous studies observing the utility of pulse oximetry in screening for CCHD, a work group was convened to develop strategies for the implementation of safe, effective, and efficient CCHD screening with pulse oximetry.⁷ The work group found sufficient evidence to recommend the use of pulse oximetry to screen for CCHD, and further recommended that screening be performed with motion-tolerant pulse oximeters that report functional oxygen saturation (SpO₂) and have been validated in low-perfusion conditions.⁷

In a recent study, researchers found a 33% decrease in infant cardiac deaths after statewide implementation of mandatory policies for CCHD screening, compared with prior periods and states without policies, as well as a 21% decrease in early infant deaths from other/unspecified cardiac causes.⁸