Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome.

[22q11.2 deletion syndrome]

To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22 q 11 .2 deletion syndrome , and to provide guidelines for screening 22 q 11 .2 deletion prenatally .This retrospective study evaluated 1 ,137 consecutive fetuses that had prenatal genetic testing for 22 q 11 .2 deletion because of suspected congenital heart disease between September 2002 and December 2012 , at Asan Medical Center , Seoul , Korea .M ain cardiovascular diseases in the 53 fetuses with confirmed 22 q 11 .2 deletions were tetralogy of Fallot (n = 24 , 45 %), interrupted aortic arch (n = 10 , 19 %), ventricular septal defect (n = 5 , 9 %), double outlet right ventricle (n = 4 , 8 %), and coarctation of the aorta (n = 4 , 8 %). Other cardiac defects were rarely associated with 22 q 11 .2 deletion . One fetus had persistent truncus arteriosus , one had aortic stenosis , and one had hypoplastic right heart syndrome . Two fetuses had normal intracardiac anatomy with an isolated right aortic arch , and one had an isolated bilateral superior vena cava .A variety of congenital heart diseases were seen during the prenatal period . Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22 q 11 .2 deletion . When such anomalies are diagnosed by fetal echocardiography , genetic testing for 22 q 11 .2 deletion should be offered . Even if less frequent deletion-related cardiac defects are detected , other related anomalies , such as thymic hypoplasia or aplasia , should be evaluated to rule out a 22 q 11 .2 deletion .

Diseases
Validation

Diseases presenting "prenatal period" symptom

22q11.2 deletion syndrome

alexander disease

congenital toxoplasmosis

homocystinuria without methylmalonic aciduria

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