16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological
investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6;
37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle
(n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included
interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%)
and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive
lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.