PRENATAL-DIAGNOSIS OF 22Q11 DELETIONS - A SERIES OF 5 CASES WITH CONGENITAL HEART-DEFECTS

We report a series of five patients with congenital heart defects in w hom a prenatal diagnosis of 22q11 deletion has been made. The accurate cardiac and cytogenetic diagnoses were made between 20 and 23 weeks' gestation in all cases and the cardiac findings were all confirmed pos tnatally. The cardiac abnormalities included tetralogy of Fallot with absent pulmonary valve, pulmonary atresia with VSD, common arterial tr unk, and left atrial isomerism with double outlet right ventricle. The problems of genetic counselling in these cases are discussed. A recom mendation is made to test all fetuses with conotruncal heart abnormali ties detected prenatally for a 22q11 deletion, whereas guidelines for other congenital heart disease types are less clear.