Dynamics in prevalence of Down syndrome in children with congenital heart disease

Abstract

Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome patients and progress in educational, social, and financial support for their families; this development is noteworthy as it adds new aspects to the present discussion in the media and political settings.

Multiorgan involvement and management in children with Down syndrome

“…9,15 Recent studies have shown a decline in the incidence of CHD over time, which have been suggested to be related to increased prenatal detection of CHD with a resultant increased number of selective terminations. 15,16,18 In unselected populations, septal defects are most commonly associated with DS, particularly atrioventricular septal defects (AVSD), followed by ventricular septal defects (VSD), and atrial septal defect (ASD). In a recent population-based cohort study of infants born with DS and CHD, AVSD was diagnosed in 42%, VSD in 22% and ASD in 16%.…”

Association of Maternal Age with Type of Congenital Heart Disease in Patients with Down Syndrome: A Single-center Study

“…Although varying studies have reported that the distribution of CHDs in DS may vary according to ethnicity, in the majority of the studies AVSD, VSD, and ASD are reported to be still the most common three types of CHD in this group of patients [6,9,14]. In western European countries and the USA, AVSD (43%) is reported to be the most common CHD associated with DS followed by, VSD (32%); secundum atrial septal defect (10%); tetralogy of Fallot (6%); and isolated PDA (4%) and about 30% of patients have several cardiac defects [7,15].…”

Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations

“…Data is sparse regarding the overall ascertainment of fetal echocardiography leading to a diagnosis of aneuploidy, and there are few or no studies regarding fetuses with aneuploidy assessed by other means, and their subsequent echocardiographic findings (Pavlicek et al, 2019;Tuuli et al, 2009). In addition to the expanded prenatal diagnosis of aneuploidy syndromes with frequent CHDs, postnatal diagnosis of the most severe CHDs in CCHD newborn screening programs has grown rapidly worldwide (Bakker et al, 2019;Liberman et al, 2014;Oster et al, 2016 Smallhorn, & Freedom, 1990Wylie et al, 1994Lin et al, 2007Polli et al, 2014Kosiv, Gossett, Bai, & Collins, 2017Domingo, Carey, Eckhauser, Wilkes, & Menon, 2019Van Praagh et al, 1989Musewe et al, 1990Balderston, Shaffer, Washington, & Sondheimer, 1990Baty et al, 1994Crider, Olney, & Cragan, 2008Savva, Walker, & Morris, 2010Kosiv et al, 2017Abdelgadir, Nowaczyk, & Li, 2013Kehinde et al, 2014Bergstrom et al, 2016Pfitzer et al, 2018;Freeman et al, 2008Lange, Guenther, Busch, Hess, & Schreiber, 2007de Graaf et al, 2015 Prevalence of syndrome per 10,000 livebirths Abbreviations: AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CHD, congenital heart defect; ETA, elongation of the transverse aorta; HLHS, hypoplastic left heart syndrome; LB, livebirth; PLSVC, persistent left superior vena cava; TAPVC, total anomalous pulmonary venous connection. disability, and high mortality.…”