The association between congenital heart disease and Down syndrome in prenatal life
To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero. Retrospective case series. Fifty-two fetuses with a cytogenetic diagnosis of DS managed at our Fetal Cardiology Unit in the study period. In particular, two populations of fetuses with DS were studied: a group of 41 DS fetuses referred to our unit for fetal echocardiography due to the chromosomal anomaly and a second group of 274 fetuses referred because of suspected CHD, 11 of which were found to have DS. All fetuses were submitted to detailed ultrasound evaluation of fetal anatomy. Associated extracardiac anomalies, and presence and type of CHD, were recorded for all fetuses. Karyotyping was obtained by means of cordocentesis or amniocentesis. Necropsy or neonatal echocardiograms were sought for confirmation of the prenatal diagnosis. In the group of 41 fetuses with known DS, the incidence of CHD was 56% ([atrioventricular septal defect (AVSD) 44%, ventricular septal defect (VSD) 48%], the remainder having other heart defects). Conversely, considering the incidence of DS in fetuses with CHD, 43% of all AVSDs (53% of AVSD with normal visceral situs) were associated with DS, whereas none of the 39 cases of VSD was associated with ...Continue Reading
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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.