About 30 percent of infants born with critical congenital heart disease (CCHD) have their conditions detected more than three days after birth, and the use of a universal screening tool based on pulse oximetry could result in earlier detection, according to a study published online Feb. 3 in JAMA Pediatrics.

Researchers led by Cora Peterson, Ph.D., of the Centers for Disease Control and Prevention in Atlanta, sought to estimate how many children born with CCHD get diagnosed late (more than three days after birth) and determine what factors may be associated with this late detection.

They evaluated data from the National Birth Defects Prevention Study (NBDPS), a U.S. population-based, nine-site study of birth defects. They included all infants born alive between Jan. 1, 1998 and Dec. 31, 2007 with nonsyndromic CCHD that could potentially be detected by using pulse oximetry. Their final analysis included 3,746 infants.

The primary outcome was the proportion of infants with CCHD detected late, either through echocardiography or through autopsy. The investigators assumed that universal screening could reduce late diagnoses. As secondary outcomes, they assessed the associations between certain demographic variables and late detection of CCHD.

Late detection of CCHD occurred in 1,106 (29.5 percent) of the 3,746 study infants. The proportion of late detection varied based on the condition. Of the 120 infants born with pulmonary atresia, nine (7.5 percent) were detected late and 497 of 801 (62 percent) of coarctation of the aorta cases were detected late.

After multivariable adjustment, there were significant differences in late detection based on CCHD type and NBDPS study site. The researchers also found that infants with extracardiac defects were significantly less likely to have their CCHD detected late (adjusted prevalence ratio 0.58).

They argued that the evidence suggests the sensitivity of CCHD pulse oximetry screening could vary based on CCHD type. They also noted that the sensitivity of pulse oximetry in previous studies ranged widely depending on CCHD type.

Among the study’s limitations, the authors explained, were the possibility that CCHD was overestimated due to the exclusion of genetic syndromes and the possibility of differing neonatal clinical practices in the nine study sites.

Despite the limitations, they wrote that their findings suggest “that many infants with CCHD might benefit from screening through pulse oximetry before birth hospital discharge” and more population-based studies are needed.