Can we predict 22q11 status of fetuses with tetralogy of Fallot?
OBJECTIVE
To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies.


METHODS
One hundred and fifty-one consecutive fetuses with tetralogy of Fallot without or with pulmonary atresia were screened for 22q11 deletion. Additional echographic features [increased nuchal translucency (NT), intrauterine growth retardation (IUGR), polyhydramnios, extracardiac malformations, pulmonary arteries abnormalities] were noted.


RESULTS
Twenty-five fetuses had a 22q11 deletion (16.6%). Increased NT, polyhydramnios and IUGR were more frequent in fetuses with 22q11 deletion as well as pulmonary arterial abnormalities. When these different features were present in the same fetus with tetralogy of Fallot, 22q11 deletion can be predicted with a sensitivity of 88%.


CONCLUSIONS
Simple echographic features can help to predict 22q11 status in fetuses with tetralogy of Fallot. This may improve the efficiency of prenatal screening for this defect.
Boudjemline
Younes
Y
Service de Cardiologie Pédiatrique, Hôpital Necker Enfants Malades, Paris, France.
Fermont
Laurent
L
Le Bidois
Jérôme
J
Villain
Elizabeth
E
Sidi
Daniel
D
Bonnet
Damien
D
D002892:Chromosomes, Human, Pair 22; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D017353:Gene Deletion; D006801:Humans; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology; D010641:Phenotype; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011651:Pulmonary Artery / Q000002:abnormalities / Q000000981:diagnostic imaging; D018633:Pulmonary Atresia / Q000000981:diagnostic imaging / Q000235:genetics; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging / Q000235:genetics*; D016216:Ultrasonography, Prenatal