title: [Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases].
abstract: We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
authors.affiliation: Centre Hospitalier, Draguignan.
authors.forename: J M
authors.initials: JM
authors.lastname: Gicquel
authors.forename: A
authors.initials: A
authors.lastname: Potier
authors.forename: J F
authors.initials: JF
authors.lastname: Camillieri
authors.forename: D
authors.initials: D
authors.lastname: Grinneiser
authors.forename: F
authors.initials: F
authors.lastname: Rouault
mesh_terms: D006332:Cardiomegaly / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D004549:Elastin / Q000235:genetics; D005260:Female; D005326:Fetal Proteins / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal; D018980:Williams Syndrome / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D005326:Fetal Proteins; D004549:Elastin
vernacular_title: Cardiopathie congénitale et clarté nucale avec caryotype normal. A propos de 3 cas.