Screening for Critical Congenital Heart Defects with Pulse Oximetry: Medical Aspects

Abstract

The detection of newborn babies with potentially life-threatening, critical congenital heart defects (CCHDs) before they collapse or expire remains an important clinical challenge. The absence of physical signs and the difficulty assessing mild cyanosis means that the newborn baby check misses up to a third of babies. Fetal anomaly ultrasound scanning identifies an increasing proportion, but this screen is operator-dependent and therefore highly variable; although some units report very high detection rates, overall most babies with CCHD are still missed. Pulse oximetry screening (POS) is an additional test that meets the criteria for universal screening. POS increases overall detection of CCHD to over 90% and also identifies babies with noncardiac, hypoxemic conditions (such as congenital pneumonia, early-onset sepsis, and pulmonary hypertension), which are usually included in the false positives. There is a wealth of published data on the POS, both in a research setting and more recently in routine clinical practice, and consideration of POS is becoming increasingly widespread particularly among high-income countries. But a degree of controversy still remains, and debate continues regarding the most appropriate time to screen, the most effective screening pathway, and screening outside the well-baby nursery. So, should all newborn babies be screened with POS, if so, when and where should screening take place, what saturations are acceptable, and which conditions are we trying to identify? This review will look at the available evidence and try to suggest the way forward for those considering its introduction into their clinical practice.

Diagnostic values of the femoral pulse palpation test

“…This discrepancy may be caused by different populations, countries and definitions of CoA. Our results confirm previous findings that the routine newborn examination is an insufficient screening test for CoA and other left-sided obstructive heart malformations 1 6 17 25–30. We hypothesised that sensitivity would be below 50%, which seemed a plausible number based on the literature.…”

Cerebral Arteriovenous Malformation Detected by Newborn Congenital Heart Disease Screen with Echocardiography

“…As many as 80% of CCHD “false-positive” screens occur because of important noncardiac pathology. 1 , 2 , 3 , 5 , 6 , 7 This case highlights the importance of considering working through a broad differential that includes infection, pulmonary, cardiovascular, or neurologic pathology 3 , 4 , 12 , 13 , 14 before dismissing positive test results. Although prenatal ultrasound technology continues to improve, noncardiac congenital malformations may be missed using routine screening parameters at 20 weeks.…”

“…The “false-positive” rate of the CCHD screen is 0%–1.8%, 1 , 2 , 3 , 4 but 27%–80% of these false positives arise from important noncardiac pathology. 1 , 2 , 3 , 5 , 6 , 7 Cerebral arteriovenous malformations (AVMs) are often not detected on prenatal ultrasound, but early detection improves outcomes. 8 , 9 We describe a case of cerebral AVM detected by abnormal newborn CCHD screen and echocardiography.…”

Should we start a nationwide screening program for critical congenital heart disease in Turkey? A pilot study on four centres with different altitudes

“…A large number of studies have reported a high sensitivity and specificity for pulse oximetry in the early detection of CCHD in newborn babies. [7][8][9] Today, CCHD screening has been conducted in many developed countries. In 2012, a large meta-analysis of 13 high-quality studies comprising nearly 230,000 infants has confirmed the test accuracy of universal pulse oximetry screening.…”