PMID: 11920900Mar 29, 2002Paper

Can we predict 22q11 status of fetuses with tetralogy of Fallot?

Prenatal Diagnosis
Younes BoudjemlineD Bonnet

Abstract

To determine if chromosome 22q11 deletion status can be predicted in fetuses with tetralogy of Fallot as regards additional phenotypic anomalies. 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. 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%. 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.

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Citations

Jul 13, 2002·Prenatal Diagnosis
Dec 21, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R ChaouiH Körner
Jul 28, 2010·European Journal of Medical Genetics·Florence BretelleNicole Philip
Feb 18, 2010·Current Problems in Surgery·Avihu Z GazitA Thomas Pezzella
Oct 27, 2006·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·V ZidereL D Allan
Jun 23, 2015·Journal de gynécologie, obstétrique et biologie de la reproduction·A LamourouxP Mares
Dec 14, 2004·American Journal of Obstetrics and Gynecology·Jay W MooreRebecca Berry
Feb 24, 2009·Archives of Cardiovascular Diseases·Fanny BajolleDamien Bonnet
Sep 12, 2002·Prenatal Diagnosis·R ChaouiK D Kalache
Oct 22, 2005·Journal of Clinical Ultrasound : JCU·Theera TongsongSupatra Sirichotiyakul
Jan 8, 2019·Ultraschall in der Medizin : Organ der Deutschen Gesellschaft für Ultraschall in der Medizin, [der] Österreichischen Gesellschaft für Ultraschall in der Medizin, [der] Schweizerischen Gesellschaft für Ultraschall in Medizin und Biologie·Ingo GottschalkChristoph Berg

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