Critical Congenital Heart Defects Symptoms, Causes, Diagnosis, and Treatment

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:

• Heart murmur
• Tachypnoea
• Hypotension
• Hypoxemia
• Cyanosis

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

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 studies^9,11,13,17 reported that important non-cardiad conditions, such as respiratory disorders, infections and pulmonary hypertension, were also identified by POS, further adding to its value.