Issue 1/2026, Брой 1/2026, Articles

Pulse oximetry screening for early detection of criticalcongenital heart malformations in the newborn

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R. Lekova, D. Pechilkov

Clinic of Pediatric Cardiology, National Cardiology Hospital – Sofia

Abstract

Congenital heart defects (CHDs) are the most common congenital anomalies, affecting approximately 1% of newborns. They are a leading cause of morbidity and mortality in childhood. In about one third of cases, these are critical congenital heart defects (CCHD), which require urgent therapeutic interventions (invasive and non-invasive). CCHD represent a group of conditions predominantly characterized by duct-dependent pulmonary or systemic circulation. Clinical presentation occurs soon after birth with life-threatening hypoxemia or cardiogenic shock. When not detected by fetal echocardiography or clinical
examination in the early neonatal period, up to 30% of infants are discharged home as healthy, which is associated with subsequent critical deterioration and mortality rates reaching up to 50%.
Pulse oximetry screening (POS) performed at 24-48 hours of life has high specificity for the early detection of these anomalies. Infants with a positive screening result are referred for consultation with a pediatric cardiologist and echocardiography. This allows early diagnosis and timely initiation of therapy, thereby improving clinical outcomes.

Key words: critical congenital heart defects, pulse oximetry screening, newborn

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Адрес за кореспонденция:

Lekova, R.

Department of Pediatric Cardiology, National Heart Hospital
65, “Konyovitsa”, Str.
1309, Sofia, Bulgaria
tel.: +359 895 640 896
e-mail: reneta.lekova@abv.bg