Introduction: The prevalence at birth of congenital heart disease in Portugal is 8.3/1000 births; undetected critical congenital heart disease may result in adverse outcomes for the fetus/newborn infant. This study describes the reported cases of congenital heart disease in Portugal in 2015 regarding antenatal diagnosis, cardiac defect, and presence of other congenital anomalies/chromosomal abnormalities. These indicators are compared in live births and medical pregnancy terminations. Additionally, postnatal deaths were characterized.Material and Methods: Congenital heart disease data derived from the 2015 Portuguese National Registry of Congenital Birth Defects were analyzed. The prevalence rates per 1000 births were assessed by the chi-square test of independence.Results: The prevalence of congenital heart disease in this study was 5/1000 live-births (339 live-births, 20% with critical defects). The most common defects were ventricular septal defect (38%), atrial septal defect (15%), aortic coarctation (7%), tetralogy of Fallot (7%) and pulmonary stenosis (5%). One third of the live births had antenatal diagnosis of congenital heart disease. In the live-births with critical congenital heart disease, 54% had antenatal diagnosis and 14% were diagnosed at birth. There were records of 84 pregnancy terminations; 49% had critical defects, 75% had non-cardiac congenital anomalies and 40% had chromosomal abnormalities. There were 15 postnatal deaths recorded (3.4% mortality rate), associated with prematurity/low birthweight, critical congenital heart disease, other non-cardiac congenital anomalies and chromosomal abnormalities.Discussion: The data analysis revealed a prevalence of congenital heart disease in this study of 5/1000 births (inferior to other international studies), with a distribution per type of anomaly similar to that reported in previously published work. There were significant regional differences that need further studying.Conclusion: These results are paramount to characterize the Portuguese scenario and improve Healthcare planning. It is important to improve reporting in the Portuguese National Registry of Congenital Birth Defects.
Quality assurance measures in the CONCOR national registry and DNA-bank of patients with congenital heart disease in the Netherlands