congenital heart disease detection in slovenia: improvement potential of neonatal pulse oximetry screening

Introduction: Patients with major or critical congenital heart disease (CHD) require surgical treatment or interventional cardiac catheterization during the first year or 28 days of life, respectively. Currently, the detection of CHD in Slovenia relies on the prenatal ultrasound screening and physical examination of the newborn.
Aims: 1) To determine the incidence of major/critical CHD in Slovenia; 2) to determine the proportion of infants with late detection of major/critical CHD based on the existing clinical practice; and 3) to estimate the improvement in CHD detection with a nation-wide neonatal pulse oximetry screening programme.
Methods: We reviewed the documentation of all patients with major/critical CHD born in Slovenia in years 2007–2012. We determined whether the heart condition was detected: 1) on time – prenatally or prior to discharge from maternity ward; or 2) late – after discharge or at autopsy.
Results: Among 128,839 live-born babies, 293 were diagnosed with a major CHD (2.27/1000 live births, 95 % confidence interval (CI): 2.0–2.5/1000) and of those 150 with a critical CHD (1.16/1000 live births, 95 % CI: 1.0–1.4/1000). Late detection occurred in 17.7 % of patients with major and 10.9 % patients with critical CHD. Out of 15 late-detected patients with critical CHD, 14 had an obstructive left heart lesion. In 2 patients CHD was diagnosed after death.
Conclusions: Detection of CHD in Slovenia is satisfactory. However, in the observed period, 10.9 % of newborns with a critical CHD were discharged undiagnosed. A nation-wide pulse oximetry screening programme could improve pre-discharge CHD detection.