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Can we predict 22q11 status of fetuses with tetralogy of Fallot?
Boudjemline, Younes; Fermont, Laurent; Le Bidois, Jérôme; Villain, Elizabeth; Sidi, Daniel; Bonnet, Damien.
Afiliación
  • Boudjemline Y; Service de Cardiologie Pédiatrique, Hôpital Necker Enfants Malades, Paris, France.
Prenat Diagn ; 22(3): 231-4, 2002 Mar.
Article en En | MEDLINE | ID: mdl-11920900
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%. CONCLUSION: 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.
Asunto(s)
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tetralogía de Fallot / Cromosomas Humanos Par 22 / Eliminación de Gen Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2002 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tetralogía de Fallot / Cromosomas Humanos Par 22 / Eliminación de Gen Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2002 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido