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Critical congenital heart defects (CCHD) are serious heart defects present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD can either prevent the heart from pumping blood effectively or reduce the amount of oxygen in the blood. As a consequence, organs and tissues throughout the body do not receive the oxygen they require, leading to organ damage and other life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Although babies with CCHD can present as healthy for the first few hours or days of life, the following signs and symptoms may soon become apparent:
Critical congenital heart defects which require intervention in the first few weeks of life occur in about two in 1000 live births and are a major cause of neonatal mortality and morbidity.1,2,3 Modern day surgical and catheter interventions have led to excellent outcomes for most cases of CCHD, but timely detection is essential.3
Existing screening strategies for newborn babies, including antenatal ultrasound and postnatal examination, do not detect non-syndromic CCHD before discharge in up to one-third of cases.1,2,3 Many affected infants will either collapse or die before diagnosis.4,5,6
Pulse oximetry screening (POS) improves early detection of CCHD in newborn babies by identifying those with low oxygen saturations.4,5,6,7,8,9,10 POS has been shown to be simple, quick, painless,7,8,9 cost-effective and ultimately tolerable for both staff and parents.9 Several studies carried our in the UK, US and Sweden have demonstrated that POS can be either cost-effective or cost-neutral in certain settings.11,12,13 Additionally, POS has been shown to have a consistent test accuracy.7 In Europe, POS is being used by an increasing number of hospitals, and pilot studies are underway in several countries.10
To date, however, only a few countries (including Polar, Ireland, and Switzerland) have issued national guidelines recommending universal screening with pulse oximetry.7,14
The addition of POS (with new-generation, motion-tolerant technology) to existing screening methods such as antenatal ultrasound and postnatal examination increased the overall detection of CCHD to 90-96%, irrespective of the detection rates of the other screening methods.16,15,16 Most studies9,11,13,17 reported that important non-cardiad conditions, such as respiratory disorders, infections and pulmonary hypertension, were also identified by POS, further adding to its value.