Congenital Heart Disease Prevalence in Portugal in 2015: Data from the National Register of Congenital Anomalies

Abstract

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.