Congenital heart disease in Down's syndrome: two year prospective early screening study.
OBJECTIVE
To determine the effectiveness of clinical examination, chest radiography, and electrocardiography compared with echocardiography in detecting congenital heart disease early in the life of children with Down's syndrome.


METHODS
Prospective two year screening survey.


METHODS
Regional paediatric cardiology service, Northern Ireland.


METHODS
81 newborn infants with Down's syndrome born in Northern Ireland between November 1987 and November 1989.


METHODS
Clinical examination, chest radiography, and electrocardiography soon after birth followed by cross sectional Doppler echocardiography.


METHODS
Diagnostic ability of clinical examination, radiography, and electrocardiography compared with echocardiographic findings.


RESULTS
34 babies had congenital heart disease detected by echocardiography (13 had atrioventricular septal defects, seven secundum atrial septal defects, six a solitary patent ductus arteriosus, five isolated ventricular septal defects, and three combinations of heart defects). Individual examination methods were insensitive (the sensitivity of clinical examination was 0.53, of radiography 0.44, and of electrocardiography 0.41) but highly specific (the specificity of clinical examination was 0.94, of radiography 0.98, and of electrocardiography 1.0), although sensitivity improved when the three techniques were combined (the sensitivity was 0.71, the specificity 0.91).


CONCLUSIONS
Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed. Early detection may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery.
Tubman
T R
TR
Cardiac Unit, Royal Belfast Hospital for Sick Children.
Shields
M D
MD
Craig
B G
BG
Mulholland
H C
HC
Nevin
N C
NC
D004314:Down Syndrome / Q000150:complications* / Q000473:pathology; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000473:pathology; D015997:Neonatal Screening; D009660:Northern Ireland; D010808:Physical Examination; D011237:Predictive Value of Tests; D011446:Prospective Studies; D013902:Radiography, Thoracic; D012680:Sensitivity and Specificity