22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs
Prenatal Diagnosis2003Vol. 23(9), pp. 752–757
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Paolo Volpe, Maurizio Marasini, G Caruso, Andrea Marzullo, Antonia Lucia Buonadonna, P Arciprete, Salvatore Di Paolo, Gennaro Volpe, Mattia Gentile
Abstract
Our study demonstrates that 22q11 microdeletion occurs in 20% of malformations of the outflow tracts and IAA type B, as detected in utero, and that this association is significantly predicted by the presence of associated ultrasound findings: thymic hypo/aplasia, IUGR and additional aortic arch anomalies. The feasibility of a correct prenatal diagnosis should enable clinicians to provide the couple with further informative counselling and to plan adequate post-natal medical interventions.
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