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Routine physical examination fails to detect at least half of critical congenital heart disease (CHD) cases. In the largest study to date, investigators used pulse oximetry to screen for CHD on admission to the newborn nursery in 50,000 infants (86% of nearly 58,000 live births) delivered at 14 Norwegian hospitals in 2005 and 2006.
In 1360 newborns who failed the initial screening test (postductal arterial oxygen saturation [SpO2] <95%), 324 results were considered pathologic because of symptoms or persistent SpO2 <95% on repeat testing. Diagnoses among these 324 cases included CHD (43 infants), pneumonia-septicemia (55), transient tachypnea (54), and prolonged transitional circulation (147). At age 6 months, 658 of the 58,000 screened and unscreened infants had CHD diagnoses. Of these, 46 cases (7%) were diagnosed prenatally and 40 (6%) were detected before discharge by pulse oximetry screening. Remaining cases were detected by routine physical exam in the nursery (320), after admission to the neonatal ICU (178), or after discharge (74). Among infants with critical CHD (e.g., ductus-dependent lesions), pulse oximetry screening detected 27 of 35 cases (sensitivity, 77%; specificity, 99%; false-positive rate, 0.6%).
Meberg A et al. First day of life pulse oximetry screening to detect congenital heart defects. J Pediatr 2008 Jun; 152:761.
Mahle WT. Physical examination and pulse oximetry in newborn infants: Out with the old, in with the new? J Pediatr 2008 Jun; 152:747.
Comment
As noted by an editorialist, determining the possible role of neonatal pulse oximetry screening is complicated. Screening infants before 24 hours of age increases the number of false-positive tests but also improves early detection of newborns with critical CHD. The optimal SpO2 cutoff also is debatable. Whether nurseries should institute routine screening or continue to rely on physical examination likely depends on the balance between the clinical burden and expense of evaluating false-positive tests versus the potentially improved clinical outcomes and cost savings associated with early detection, particularly of critical CHD.