• Isabel Saraiva Melo, Paula Braz, Rita Roquette, Paulo Sousa, Carla Nunes, and Carlos Dias.
• Pediatria. Clínica CUF Almada. Almada; Centro de Investigação em Saúde Pública. Escola Nacional de Saúde Pública. Universidade NOVA de Lisboa. Lisboa. Portugal.
• Acta Medica Port. 2020 Jul 1; 33 (7-8): 491-499.

IntroductionThe 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 MethodsCongenital 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.ResultsThe 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.DiscussionThe 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.ConclusionThese 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.

15 keywords...

hide…